Longevity Report


This report is based on your raw file genome’s data cross-referencing against available genetic databases and constructing a report based on interpretations in these databases. Variant annotations were made with OakVar. Annotation databases that was used for report generating: cadd_exome, gnomAD, pubmed, clinpred, clinvar, ncbigene, omim, prec, provean, revel, sift, LongevityMap.

Attention! The information provided is just for informational purposes. Its clinical implementation is possible just after consulting your healthcare practitioner. All drugs, vitamins and lifestyle changes may be prescribed just by your healthcare practitioner, based on clinical blood test results, family history etc. Genetical testing just provides additional information about possible health risk and risk management.

The report consists of:

Longevity variants

This report estimates how many significant longevity variations you have and whether its "a lot" or "not so" for your population. The data for this report is obtained mainly by studying centenarians’ genomes.

The longevity variants report is based on 1900 variants from LongevityMap ( genomics.senescence.info/longevity ) and other data sources which are scored and prioritized according to multiple criteria. It also depends on ClinGene, dbSNP and ClinVar modules.

In the table you can see, how many significant for your population variants were found in your genome. Positively longevity-associated variants are marked with green, negatively associated - with red.

We have analyzed genes that affect different longevity pathways in your genome. We have divided them according to the longevity pathways they contribute to. So you can see which of them “work well” and which do not so.

Longevity pathways encompass a fascinating realm of biological processes and signaling pathways that play a crucial role in regulating aging and lifespan. Recent advancements in our understanding of these pathways have yielded valuable insights, including the identification of specific genes that impact the aging process [PMID:33891896].

To help you better understand the role your genes play in longevity, we have categorized them into 11 distinct groups.

Our analysis has allowed us to identify which of your genes contribute to different longevity pathways, giving you a clearer picture of which genes are performing well and which ones may need additional attention.

Lipids play crucial roles in regulating aging and longevity. Lipids are key biological molecules that contribute to cellular and organismal functions in three principal ways. First, they are fundamental structural elements of cellular membranes. Second, they are key molecules in energy metabolism to fuel the cell. Third, they play roles by acting as signaling molecules. Lipid metabolism is not considered a separate longevity pathway, but genes that regulate lipid transfer, like APOE and CETP, show the strongest association with longevity. This is a list of genes we analyzed in your genotype related to lipid transfer:

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RSIDPopulationGene Your genotypeRef alleleAlt alleleZygosity Weight
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rs429358multiple APOE C/TTChet-0.5
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rs4420638multiple APOC1 G/AAGhet-0.375
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rs405509Danish, German, Dutch APOE G/GTGhom-0.3
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rs4784744Danish, German, Dutch CETP A/GGAhet0.05
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rs7524519American (Caucasian) LYPLAL1 G/AAGhet0.07
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rs9916344American (Caucasian) PITPNM3 T/CCThet0.07
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rs289714Danish, German, Dutch CETP A/GGAhet0.15
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rs1800774Danish, German, Dutch CETP T/CCThet0.15
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rs1501299Jordanian ADIPOQ G/GGGhom0.19
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rs440446Danish, German, Dutch APOE G/GCGhom0.3
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rs1800777Danish, German, Dutch CETP G/GGGhom0.3
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rs662multiple PON1 T/TTThom0.31
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rs5128Danish, German, Dutch APOC3 G/GGGhom0.45
+
rs5882multiple CETP G/GGGhom0.97

Identification of Crucial Genotypes

Beneficial Genotypes:

rs7524519 (LYPLAL1): This SNP is associated with longevity in a study involving centenarians and healthy controls. The individual has a heterozygous genotype (G/A), which is considered beneficial for longevity. More info on rs7524519.

rs289714 (CETP): This SNP is associated with longevity. The individual has a heterozygous genotype (A/G), which is beneficial for longevity. More info on rs289714.

rs4784744 (CETP): This SNP is associated with longevity. The individual has a heterozygous genotype (A/G), which is beneficial for longevity. More info on rs4784744.

rs1800774 (CETP): This SNP is associated with longevity. The individual has a heterozygous genotype (T/C), which is beneficial for longevity. More info on rs1800774.

rs9916344 (PITPNM3): This SNP is associated with longevity. The individual has a heterozygous genotype (T/C), which is beneficial for longevity. More info on rs9916344.

rs440446 (APOE): This SNP is associated with longevity. The individual has a homozygous genotype (G/G), which is beneficial for longevity. More info on rs440446.

rs5882 (CETP): This SNP is associated with longevity. The individual has a homozygous genotype (G/G), which is beneficial for longevity. More info on rs5882.

rs662 (PON1): This SNP is associated with longevity. The individual has a homozygous genotype (T/T), which is beneficial for longevity. More info on rs662.

rs5128 (APOC3): This SNP is associated with longevity. The individual has a homozygous genotype (G/G), which is beneficial for longevity. More info on rs5128.

rs1800777 (CETP): This SNP is associated with longevity. The individual has a homozygous genotype (G/G), which is beneficial for longevity. More info on rs1800777.

rs1501299 (ADIPOQ): This SNP is associated with longevity in men. The individual has a homozygous genotype (G/G), which is beneficial for longevity. More info on rs1501299.

Detrimental Genotypes:

rs405509 (APOE): This SNP is associated with a decreased likelihood of longevity. The individual has a homozygous genotype (G/G), which is detrimental for longevity. More info on rs405509.

rs429358 (APOE): This SNP is associated with an increased risk of Alzheimer's disease and decreased longevity. The individual has a heterozygous genotype (C/T), which is detrimental for longevity. More info on rs429358.

rs4420638 (APOC1): This SNP is associated with a decreased likelihood of longevity. The individual has a heterozygous genotype (G/A), which is detrimental for longevity. More info on rs4420638.

Interactions Between Genotypes

The presence of multiple beneficial genotypes in the CETP gene (rs289714, rs4784744, rs1800774, rs5882, rs1800777) suggests a strong positive interaction that may amplify the beneficial effects on lipid metabolism and longevity. However, the presence of detrimental genotypes in the APOE gene (rs405509, rs429358) and APOC1 gene (rs4420638) may mitigate some of these benefits, particularly concerning lipid metabolism and Alzheimer's disease risk.

Risk Assessment

Longevity Related Risks:

The individual has several beneficial genotypes associated with longevity, particularly in the CETP and APOE genes. However, the presence of detrimental genotypes in the APOE and APOC1 genes may increase the risk of decreased longevity and Alzheimer's disease.

General Risks:

The presence of the rs429358 SNP in the APOE gene is associated with an increased risk of Alzheimer's disease. Additionally, the rs405509 SNP in the APOE gene is associated with a decreased likelihood of longevity.

Risk Reduction Strategies

Lifestyle Changes: Regular physical activity, a balanced diet rich in antioxidants, and maintaining a healthy weight can help mitigate some of the risks associated with the detrimental genotypes.

Dietary Adjustments: A diet low in saturated fats and high in omega-3 fatty acids can help improve lipid metabolism and reduce the risk of cardiovascular diseases.

Medical Interventions: Regular monitoring of lipid levels and cognitive function can help in early detection and management of potential health issues. Medications to manage cholesterol levels and cognitive health may also be considered.

Additional Insights

The presence of multiple beneficial genotypes in the CETP gene suggests a strong genetic predisposition for healthy lipid metabolism, which is a positive indicator for cardiovascular health. However, the detrimental genotypes in the APOE and APOC1 genes highlight the importance of regular health check-ups and proactive management of potential health risks.

The insulin/insulin-like growth factor (IGF-1) signaling pathway is a key regulator of metabolism, growth, and aging. It has been extensively studied in various model organisms, including worms, flies, and mice, and is also thought to play an important role in human aging and longevity. This pathway is also involved in glucose metabolism. This is a list of genes we analyzed in your genotype related to insulin/IGF-1 signaling pathway:

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RSIDPopulationGene Your genotypeRef alleleAlt alleleZygosity Weight
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rs2267723Danish GHRHR G/AAGhet-0.11
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rs5771675American (Caucasian) FAM19A5 G/AAGhet0.065
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rs3842755Danish INS A/CCAhet0.11
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rs216493American (Caucasian) PLEKHA7 G/GAGhom0.14
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rs155979Korean PCSK1 C/CGChom0.14
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rs9899404American (Caucasian) T/TTThom0.14
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rs3782415American (Caucasian) SOCS2 T/TTThom0.14
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rs4918255American (Caucasian) SORCS1 T/TTThom0.14
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rs6812745American (Caucasian) SORCS2 A/AAAhom0.14
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rs768023German A/GGAhet0.175
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rs572169Danish GHSR T/TCThom0.22
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rs1002149Danish GSR G/GGGhom0.22
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rs6911407German A/CCAhet0.25
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rs4946936Chinese (Han) FOXO3 C/TTChet0.25
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rs2274776German AFG1L A/AAAhom0.25
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rs2802290German FOXO3 A/GGAhet0.3
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rs473268German A/CCAhet0.35
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rs479744multiple multiple T/GGThet0.395
+
rs9400239multiple FOXO3 C/TTChet0.435
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rs7762395multiple FOXO3 A/GGAhet0.445
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rs13217795multiple FOXO3 T/CCThet0.46
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rs2883881German FOXO3 A/AAAhom0.5
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rs2764264multiple FOXO3 C/CCChom0.87
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rs13220810multiple FOXO3 T/TTThom0.88
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rs2802288multiple FOXO3 A/AAAhom0.92
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rs2802292multiple FOXO3 G/GGGhom0.95

Identification of Crucial Genotypes

Beneficial Genotypes:

FOXO3 (rs2802292, rs2802288, rs13220810, rs2764264): These SNPs in the FOXO3 gene are associated with increased longevity. Studies have shown that individuals with these variants tend to live longer. For example, rs2802292 has been significantly associated with longevity in multiple populations, including Chinese (Han) and American of Japanese origin. (PubMed: 19793722, PubMed: 18765803)

GHSR (rs572169): This SNP in the GHSR gene is associated with longevity. The GHSR gene plays a role in energy homeostasis and regulation of body weight. (PubMed: 22406557)

INS (rs3842755): This SNP in the INS gene is associated with longevity. The INS gene is involved in insulin signaling, which is crucial for metabolic regulation. (PubMed: 22406557)

Detrimental Genotypes:

GHRHR (rs2267723): This SNP in the GHRHR gene is associated with a decreased likelihood of longevity. The GHRHR gene is involved in growth hormone signaling, and mutations can lead to growth hormone deficiencies. (PubMed: 22406557)

Interactions Between Genotypes

The presence of multiple beneficial SNPs in the FOXO3 gene (rs2802292, rs2802288, rs13220810, rs2764264) may have a synergistic effect, further enhancing the likelihood of increased longevity. Conversely, the detrimental effect of the GHRHR (rs2267723) SNP may be mitigated by the presence of beneficial SNPs in other genes such as FOXO3 and INS.

Risk Assessment

Longevity Related Risks:

Individuals with beneficial SNPs in the FOXO3 gene (rs2802292, rs2802288, rs13220810, rs2764264) have a higher likelihood of increased longevity. These SNPs are associated with better regulation of apoptosis and stress resistance, which are crucial for long-term health.

The presence of the GHSR (rs572169) and INS (rs3842755) SNPs also contributes positively to longevity by enhancing metabolic regulation and energy homeostasis.

General Risks:

The GHRHR (rs2267723) SNP is associated with a risk of growth hormone deficiencies, which can lead to short stature and other metabolic issues. This SNP may negatively impact overall health and longevity.

Risk Reduction Strategies

For Beneficial Genotypes:

  • Maintain a balanced diet rich in antioxidants to support the beneficial effects of the FOXO3 gene variants.
  • Regular physical activity can enhance the positive effects of the GHSR and INS gene variants on metabolic health.

For Detrimental Genotypes:

  • For individuals with the GHRHR (rs2267723) SNP, monitoring growth hormone levels and considering medical interventions if necessary can help mitigate the risks associated with this variant.
  • Regular health check-ups to monitor metabolic health and early intervention in case of any abnormalities.

Additional Insights

The presence of multiple beneficial SNPs in the FOXO3 gene suggests a strong genetic predisposition towards longevity. This can be further supported by a healthy lifestyle, including a balanced diet, regular exercise, and stress management techniques.

The detrimental effect of the GHRHR (rs2267723) SNP can be managed through proactive health monitoring and medical interventions if necessary. This highlights the importance of personalized healthcare based on genetic profiles.

Antioxidant defense plays an important role in the aging process and longevity. Oxidative stress, which is caused by an imbalance between the production of reactive oxygen species (ROS) and the body's ability to neutralize them, is a major contributor to age-related diseases and the aging process.

The body has various mechanisms to defend against oxidative stress, including antioxidant enzymes such as superoxide dismutase (SOD), catalase, and glutathione peroxidase, as well as non-enzymatic antioxidants such as vitamins C and E, and glutathione. These antioxidants work together to neutralize ROS and prevent damage to cells and tissues.

Studies have shown that increased antioxidant defense can promote longevity and delay the onset of age-related diseases. This is a list of genes we analyzed in your genotype related to antioxidant defense:

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RSIDPopulationGene Your genotypeRef alleleAlt alleleZygosity Weight
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rs7319813American (Caucasian) ENOX1 T/CCThet0.07
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rs4964735Danish TXNRD1 A/GGAhet0.105
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rs7301631Danish TXNRD1 C/TTChet0.105
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rs17202060Danish TXNRD1 T/CCThet0.105
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rs7962759Danish TXNRD1 G/CCGhet0.105
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rs7318601American (Caucasian) ENOX1 A/AGAhom0.14
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rs10861169Danish TXNRD1 T/TCThom0.21
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rs4964728Danish TXNRD1 A/AGAhom0.21
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rs7310505Danish TXNRD1 C/CAChom0.21
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rs10778318Danish TXNRD1 G/GAGhom0.21
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rs7310815Danish TXNRD1 C/CCChom0.21
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rs4445711Danish TXNRD1 G/GGGhom0.21
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rs10861203Danish TXNRD1 G/GGGhom0.21
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rs10861197Danish TXNRD1 T/TTThom0.21
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rs207444Danish XDH A/AAAhom0.22
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rs5746151Danish SOD2 C/CCChom0.51
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rs5746136multiple SOD2 C/CCChom0.51

Identification of Crucial Genotypes

Beneficial Genotypes:

rs5746151 (SOD2): This SNP is associated with increased lifespan and physical functioning in the female cohort. The genotype C/C is considered beneficial for longevity.

rs5746136 (SOD2): Similar to rs5746151, this SNP is associated with increased lifespan and physical functioning in the female cohort. The genotype C/C is considered beneficial for longevity.

rs207444 (XDH): This SNP is associated with longevity in Danish populations. The genotype A/A is considered beneficial for longevity.

Detrimental Genotypes:

rs10861169 (TXNRD1): This SNP is associated with physical and cognitive performances but may have a detrimental effect on longevity. The genotype T/T is considered detrimental.

rs4964728 (TXNRD1): Similar to rs10861169, this SNP is associated with physical and cognitive performances but may have a detrimental effect on longevity. The genotype A/A is considered detrimental.

rs7310505 (TXNRD1): Similar to rs10861169, this SNP is associated with physical and cognitive performances but may have a detrimental effect on longevity. The genotype C/C is considered detrimental.

rs10778318 (TXNRD1): Similar to rs10861169, this SNP is associated with physical and cognitive performances but may have a detrimental effect on longevity. The genotype G/G is considered detrimental.

Interactions Between Genotypes

The genotypes in the TXNRD1 gene (rs10861169, rs4964728, rs7310505, rs10778318) may interact to amplify the risk of reduced longevity despite their association with improved physical and cognitive performance. On the other hand, the beneficial genotypes in the SOD2 gene (rs5746151, rs5746136) and XDH gene (rs207444) may mitigate some of these risks by promoting longevity and better physical functioning.

Risk Assessment

Longevity Related Risks:

The presence of detrimental genotypes in the TXNRD1 gene (rs10861169, rs4964728, rs7310505, rs10778318) may increase the risk of reduced longevity. However, the beneficial genotypes in the SOD2 (rs5746151, rs5746136) and XDH (rs207444) genes may help to counteract these risks.

General Risks:

The genotypes in the TXNRD1 gene are associated with improved physical and cognitive performance, which may reduce the risk of age-related decline in these areas.

Risk Reduction Strategies

Lifestyle Changes: Regular physical exercise and cognitive training can help to maintain physical and cognitive performance, potentially mitigating some of the risks associated with the detrimental TXNRD1 genotypes.

Dietary Adjustments: A diet rich in antioxidants may support the function of the antioxidant pathways, including those involving the TXNRD1 and SOD2 genes. Foods high in selenium, such as Brazil nuts, can support the function of selenoproteins like TXNRD1.

Medical Interventions: Regular health check-ups and monitoring of cognitive and physical health can help to detect and address any issues early. Antioxidant supplements may also be considered, but it is important to consult with a healthcare provider before starting any new supplement regimen.

Additional Insights

The presence of beneficial genotypes in the SOD2 and XDH genes suggests a strong antioxidant defense system, which is crucial for longevity and overall health. Maintaining a healthy lifestyle that supports antioxidant function can further enhance these benefits.

For more detailed information on the specific genes and SNPs mentioned, you can refer to the following links: rs5746151 (SOD2), rs5746136 (SOD2), rs207444 (XDH), rs10861169 (TXNRD1), rs4964728 (TXNRD1), rs7310505 (TXNRD1), rs10778318 (TXNRD1).

Mitochondria are the powerhouses of the cell, generating the energy (in the form of ATP) needed for cellular processes. They also play a key role in apoptosis (programmed cell death) and other cellular processes. Mitochondrial dysfunction and increased oxidative stress are believed to play a role in the aging process and age-related diseases. Several genes involved in mitochondrial function have been implicated in longevity. They include UCP genes, genes involved in respiratory chain functioning, SIRT3, PGC1a, and some other genes.

In general, the form of these genes determines how well you are protected from oxidative stress and how effectively your cells generate energy. This is a list of genes we analyzed in your genotype related to mitochondria function:

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RSIDPopulationGene Your genotypeRef alleleAlt alleleZygosity Weight
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rs6435326Danish NDUFS1 T/TAThom-0.19
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rs9557276American (Caucasian) CLYBL T/TGThom0.14
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rs3019435American (Caucasian) PRKN T/TGThom0.14
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rs1042718Chinese ADRB2 A/ACAhom0.195
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rs1042719Chinese ADRB2 C/CGChom0.195
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rs1042714multiple ADRB2 G/GGGhom0.195
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rs2866164multiple MTTP C/CCChom0.215
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rs15763Italian (Southern) UCP3 G/AAGhet0.245
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rs3781907Danish UCP3 A/AAAhom0.245
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rs11235972Danish UCP3 G/GGGhom0.245
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rs1429842American (Caucasian) SLC25A21 G/GGGhom0.37
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rs6435324Danish NDUFS1 G/GAGhom0.38
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rs9472817Italian (Southern) SLC25A27 C/CCChom0.49

Identification of Crucial Genotypes

Beneficial Genotypes:

  • rs15763 (UCP3): Associated with longevity in a Southern Italian population. The recessive model for this SNP was significantly associated with the longevity phenotype. NCBI Link
  • rs9557276 (CLYBL): Found to discriminate between centenarians and healthy controls in an American (Caucasian) population. NCBI Link
  • rs6435324 (NDUFS1): Associated with lifespan in a Danish female cohort. NCBI Link
  • rs1042718 (ADRB2): Associated with enhanced longevity in Chinese men. NCBI Link
  • rs1042719 (ADRB2): Associated with enhanced longevity in Chinese men. NCBI Link
  • rs3019435 (PRKN): Found to discriminate between centenarians and healthy controls in an American (Caucasian) population. NCBI Link
  • rs2866164 (MTTP): Associated with longevity in Ashkenazi Jewish population. NCBI Link
  • rs3781907 (UCP3): Associated with reduced survival chances in a Danish cohort. NCBI Link
  • rs11235972 (UCP3): Associated with reduced survival chances in a Danish cohort. NCBI Link
  • rs9472817 (SLC25A27): Associated with longevity in a Southern Italian population. NCBI Link
  • rs1429842 (SLC25A21): Found to discriminate between centenarians and healthy controls in an American (Caucasian) population. NCBI Link
  • rs1042714 (ADRB2): Associated with longevity in an American (Caucasian) population. NCBI Link

Detrimental Genotypes:

  • rs6435326 (NDUFS1): Associated with complex I deficiency and reduced physical functioning in a Danish cohort. NCBI Link

Interactions Between Genotypes

The genotypes associated with the UCP3 gene (rs15763, rs3781907, rs11235972) and NDUFS1 gene (rs6435324, rs6435326) suggest a significant interaction in mitochondrial function and longevity. Variants in UCP3 are associated with both beneficial and detrimental effects on longevity, indicating a complex interaction that may depend on other genetic or environmental factors.

Risk Assessment

Longevity Related Risks:

  • rs6435326 (NDUFS1): Increased risk of complex I deficiency and reduced physical functioning, which may impact longevity.
  • rs3781907 (UCP3) and rs11235972 (UCP3): Reduced survival chances in a Danish cohort.

General Risks:

  • rs3019435 (PRKN): Associated with Parkinson's disease and autosomal recessive juvenile Parkinson's disease.
  • rs1042718 and rs1042719 (ADRB2): Associated with nocturnal asthma, obesity, type 2 diabetes, and cardiovascular disease.

Risk Reduction Strategies

To mitigate the risks associated with the identified detrimental genotypes, consider the following strategies:

  • Regular Physical Activity: Engage in regular exercise to improve mitochondrial function and overall physical health.
  • Healthy Diet: Adopt a diet rich in antioxidants to combat oxidative stress, particularly for those with NDUFS1 variants.
  • Medical Monitoring: Regular check-ups for early detection and management of conditions like Parkinson's disease and cardiovascular issues.
  • Stress Management: Practice stress-reducing techniques such as meditation and yoga to improve overall well-being.

Additional Insights

The presence of multiple beneficial genotypes associated with longevity suggests a favorable genetic profile for extended lifespan. However, the interaction between beneficial and detrimental genotypes, particularly in mitochondrial function, highlights the importance of a holistic approach to health management.

The sirtuin genes (SIRT1-SIRT7) are a family of genes that are involved in regulating cellular processes such as DNA repair, metabolism, and stress response. The sirtuin pathway, which involves the activity of these genes, has been implicated in regulating longevity.

Studies have shown that activation of sirtuins can increase lifespan in several model organisms, including yeast, worms, and mice. This is thought to be due to the role of sirtuins in promoting cellular resilience and protecting cells from damage.

In humans, variations in the SIRT genes have been associated with age-related diseases such as Alzheimer's disease, cardiovascular disease, and cancer. Some studies have also suggested that increased activity of SIRT genes may be associated with increased lifespan and improved healthspan in humans.

This is a list of genes we analyzed in your genotype related to sirtuin pathway:

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RSIDPopulationGene Your genotypeRef alleleAlt alleleZygosity Weight
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rs107251Danish, German, Dutch SIRT6 C/TTChet0.15

Identification of Crucial Genotypes

Beneficial Genotypes:

The genotype associated with rs107251 in the SIRT6 gene has been identified as beneficial. This SNP has been associated with increased longevity in multiple studies involving Danish, German, and Dutch populations. The SIRT6 gene plays a crucial role in cellular stress resistance, genomic stability, aging, and energy homeostasis.

Interactions Between Genotypes

Currently, there is no information provided about interactions between different genotypes in this report. However, the beneficial effect of the rs107251 SNP in the SIRT6 gene suggests a positive impact on longevity, potentially interacting with other longevity-associated genes to amplify this effect.

Risk Assessment

Longevity Related Risks:

The rs107251 SNP in the SIRT6 gene is associated with increased longevity. Individuals carrying this SNP may have a higher likelihood of living longer due to the gene's role in DNA repair, maintenance of telomeric chromatin, and other cellular processes.

General Risks:

No general health risks are associated with the rs107251 SNP in the SIRT6 gene based on the provided information.

Risk Reduction Strategies

Given the beneficial association of the rs107251 SNP in the SIRT6 gene with longevity, individuals may consider lifestyle choices that support the functions of the SIRT6 gene. These could include:

  • Maintaining a balanced diet rich in nutrients that support DNA repair and cellular health.
  • Engaging in regular physical activity to promote metabolic health and reduce inflammation.
  • Minimizing exposure to environmental stressors that can cause cellular damage.

Additional Insights

The SIRT6 gene is part of the sirtuin family, which is involved in various critical cellular processes. Research suggests that sirtuins, including SIRT6, play a role in aging and metabolic regulation. Therefore, supporting overall sirtuin function through healthy lifestyle choices may further enhance the beneficial effects of the rs107251 SNP.

MTOR, also known as the mechanistic target of rapamycin, is a gene that encodes for a protein kinase involved in multiple cellular processes, including growth, metabolism, and aging. The mTOR pathway plays a complex role in aging and longevity. On the one hand, activation of the mTOR pathway has been shown to promote cellular growth and proliferation, which may be beneficial for tissue repair and regeneration during early life stages. On the other hand, chronic activation of the mTOR pathway has been implicated in age-related diseases such as cancer, metabolic disorders, and neurodegeneration.

Studies have shown that genetic or pharmacological inhibition of the mTOR pathway can extend the lifespan in a variety of model organisms, including mice, flies, and worms. Additionally, modulation of the mTOR pathway has been shown to improve age-related functional decline and delay the onset of age-related diseases in various animal models.

Genetic variants in the MTOR gene may be associated with differences in lifespan and age-related disease risk.

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RSIDPopulationGene Your genotypeRef alleleAlt alleleZygosity Weight
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rs1016339American (Caucasian) CCDC85A T/CCThet0.07
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rs4729049American (Caucasian) CDK6 C/TTChet0.07
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rs10937739American (Caucasian) PPP2R2C C/TTChet0.08
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rs3803304multiple AKT1 C/CCChom0.34

Identification of Crucial Genotypes

Beneficial Genotypes:

rs3803304 (AKT1): This SNP is associated with longevity, particularly in Danish and German populations. Studies have shown a significant association with increased lifespan, especially in Danish men. (PubMed 22929028, PubMed 19489743)

Detrimental Genotypes:

rs1016339 (CCDC85A): This SNP was identified in a genome-wide association study as one of the 281 SNPs that discriminate between centenarians and healthy controls. (PubMed 22279548)

rs10937739 (PPP2R2C): This SNP was identified in a study that connected various genetic variants with longevity. It is part of the phosphatase 2 regulatory subunit B family, which is implicated in the negative control of cell growth and division. (PubMed 22533364)

rs4729049 (CDK6): This SNP was also identified in a genome-wide association study as one of the 281 SNPs that discriminate between centenarians and healthy controls. CDK6 is important for cell cycle G1 phase progression and G1/S transition. (PubMed 22279548)

Interactions Between Genotypes

The genotypes associated with the mTOR pathway (rs1016339, rs10937739, rs4729049, and rs3803304) may interact in complex ways. For instance, while rs3803304 in AKT1 is beneficial for longevity, the other SNPs (rs1016339, rs10937739, and rs4729049) could potentially mitigate this benefit due to their associations with cell growth, division, and cancer risk.

Risk Assessment

Longevity Related Risks:

rs3803304 (AKT1): This SNP is associated with increased longevity, particularly in Danish men.

General Risks:

rs1016339 (CCDC85A): This SNP may be associated with a reduced likelihood of reaching centenarian status.

rs10937739 (PPP2R2C): This SNP is implicated in the negative control of cell growth and division, which could be associated with cancer risk.

rs4729049 (CDK6): This SNP is associated with cell cycle progression and has been observed in multiple human cancers.

Risk Reduction Strategies

Given the involvement of the mTOR pathway in these genotypes, consider the following strategies:

  • Dietary Adjustments: A diet low in protein and rich in antioxidants may help mitigate the risks associated with mTOR pathway activation.
  • Lifestyle Changes: Regular exercise and maintaining a healthy weight can help reduce the risk of cancer and other diseases associated with cell growth and division.
  • Medical Interventions: Regular screenings for cancer and other age-related diseases can help in early detection and treatment.

Additional Insights

The mTOR pathway is crucial for cell growth, proliferation, and survival. Modulating this pathway through lifestyle and dietary changes can have significant impacts on health and longevity.

Tumor suppressor genes and cell cycle regulators are not typically considered as "longevity genes" per se, but they do play an important role in the aging process and the development of age-related diseases, including cancer.

One well-known tumor suppressor gene is TP53, which has been shown to play a role in regulating cellular senescence and preventing the accumulation of damaged cells. Similarly, cell cycle regulators such as cyclin-dependent kinases (CDKs) are involved in regulating the timing and progression of cell division. The dysregulation of CDKs has been implicated in a variety of age-related diseases, including cancer and neurodegenerative disorders.

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RSIDPopulationGene Your genotypeRef alleleAlt alleleZygosity Weight
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rs4977756American (Caucasian) CDKN2B-AS1 A/GGAhet-0.18
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rs1063192American (Caucasian) CDKN2B A/GGAhet0.18
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rs1412832American (Caucasian) CDKN2B-AS1 T/CCThet0.18
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rs3120819American (Caucasian) TP53 C/AAChet0.24
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rs13008689American (Caucasian) TP53 A/GGAhet0.24
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rs9616906American (Caucasian) TP53 A/GGAhet0.24
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rs10819510American (Caucasian) TP53 G/AAGhet0.24
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rs1333049multiple multiple G/GGGhom0.24
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rs189037multiple ATM A/GGAhet0.33
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rs1801270Italian CDKN1A C/CCChom0.34
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rs1059234Italian CDKN1A C/CCChom0.34
+
rs2738679American (Caucasian) WWOX T/TTThom0.39
+
rs1205035American (Caucasian) TP53 C/CCChom0.48

Identification of Crucial Genotypes

Beneficial Genotypes:

  • rs189037 (ATM): The CT genotype is associated with longevity, showing higher frequency in long-lived individuals. NCBI Link
  • rs1205035 (TP53): The C/C genotype is associated with longevity. NCBI Link
  • rs2738679 (WWOX): The T/T genotype is associated with longevity. NCBI Link
  • rs1801270 (CDKN1A): The C/C genotype is associated with longevity. NCBI Link
  • rs1059234 (CDKN1A): The C/C genotype is associated with longevity. NCBI Link

Detrimental Genotypes:

  • rs4977756 (CDKN2B-AS1): The A/G genotype is associated with various pathologies, including cardiovascular disease and several cancers. NCBI Link

Interactions Between Genotypes

The presence of multiple beneficial genotypes (e.g., rs189037, rs1205035, rs2738679, rs1801270, rs1059234) may collectively enhance longevity. However, the detrimental genotype rs4977756 could potentially mitigate some of these benefits by increasing the risk of cardiovascular diseases and cancers.

Risk Assessment

Longevity Related Risks:

  • rs189037 (ATM): Increased likelihood of longevity.
  • rs1205035 (TP53): Increased likelihood of longevity.
  • rs2738679 (WWOX): Increased likelihood of longevity.
  • rs1801270 (CDKN1A): Increased likelihood of longevity.
  • rs1059234 (CDKN1A): Increased likelihood of longevity.

General Risks:

  • rs4977756 (CDKN2B-AS1): Increased risk of cardiovascular diseases and several cancers.

Risk Reduction Strategies

To mitigate the risks associated with the detrimental genotype rs4977756, consider the following strategies:

  • Lifestyle Changes: Regular physical activity, maintaining a healthy weight, and avoiding smoking can reduce cardiovascular risks.
  • Dietary Adjustments: A diet rich in fruits, vegetables, whole grains, and lean proteins can support overall health and reduce cancer risks.
  • Medical Interventions: Regular screenings for cardiovascular diseases and cancers can help in early detection and management.

Additional Insights

The presence of multiple beneficial genotypes related to longevity suggests a strong genetic predisposition for a longer lifespan. However, the presence of the detrimental genotype rs4977756 indicates a need for proactive health management to mitigate associated risks.

The renin-angiotensin system (RAS) plays an important role in the regulation of blood pressure, fluid balance, and electrolyte homeostasis. However, it is also involved in the aging process and the development of age-related diseases.

One of the mechanisms by which RAS influences aging is through the activation of oxidative stress and inflammation. RAS also affects the cardiovascular system and is involved in the development of hypertension, a major risk factor for cardiovascular diseases such as heart attack and stroke. Furthermore, RAS activation has been linked to the development of insulin resistance and metabolic syndrome, which are also associated with aging and age-related diseases.

In addition, RAS has been implicated in the regulation of cellular senescence, a process by which cells lose their ability to divide and contribute to aging and age-related diseases.

+
RSIDPopulationGene Your genotypeRef alleleAlt alleleZygosity Weight
+
rs1879417Italian (Southern) NOS1 T/CCThet-0.12
+
rs422858Italian (Northern) and Japanese AGTR1 C/CAChom0.225
+
rs275653Italian (Northern) and Japanese AGTR1 G/GAGhom0.45

Identification of Crucial Genotypes

Beneficial Genotypes:

rs422858 (AGTR1): This SNP is associated with extreme longevity. The presence of the C/C genotype has been linked to a higher likelihood of living to an advanced age. This was observed in both Italian and Japanese populations. More info on rs422858

rs275653 (AGTR1): Similar to rs422858, this SNP is also associated with extreme longevity. The G/G genotype has been linked to a higher likelihood of living to an advanced age. This was observed in both Italian and Japanese populations. More info on rs275653

Detrimental Genotypes:

rs1879417 (NOS1): The presence of the T/C genotype in this SNP is associated with a decreased probability of attaining longevity. This was observed in a study involving a large sample of individuals aged 19-107 years. More info on rs1879417

Interactions Between Genotypes

The genotypes rs422858 and rs275653 in the AGTR1 gene both contribute positively to longevity. Their combined presence may amplify the beneficial effects on longevity. On the other hand, the presence of the rs1879417 genotype in the NOS1 gene may counteract these benefits to some extent, as it is associated with a decreased probability of attaining longevity.

Risk Assessment

Longevity Related Risks:

rs1879417 (NOS1): The T/C genotype is associated with a decreased probability of attaining longevity. This suggests a potential risk for a shorter lifespan.

General Risks:

No specific general health risks were identified from the provided genotypes. The focus of the identified SNPs is primarily on longevity.

Risk Reduction Strategies

For rs1879417 (NOS1): To mitigate the potential negative impact on longevity, consider lifestyle changes that promote cardiovascular health, such as regular exercise, a balanced diet rich in antioxidants, and avoiding smoking. Regular health check-ups to monitor cardiovascular health can also be beneficial.

For rs422858 and rs275653 (AGTR1): Continue to maintain a healthy lifestyle that supports cardiovascular health. This includes regular physical activity, a diet low in saturated fats and high in fruits and vegetables, and managing stress levels.

Additional Insights

The AGTR1 gene encodes the type 1 receptor for angiotensin II, which is a key regulator of blood pressure and volume in the cardiovascular system. The beneficial genotypes in this gene suggest a potential for better cardiovascular health and longevity. More info on AGTR1

The NOS1 gene is involved in the production of nitric oxide, which plays a crucial role in vascular health. The detrimental genotype in this gene suggests a need for proactive measures to support vascular health. More info on NOS1

The HSP (heat shock protein) genes are a group of genes that encode heat shock proteins, which are a class of chaperone proteins that help to protect cells from stress-induced damage. HSPs have been shown to play a role in a variety of cellular processes, including protein folding, DNA repair, and apoptosis. While the exact mechanisms by which HSPA genes influence aging and longevity are not yet fully understood, it is believed that they may help to protect cells from the accumulation of damage caused by stress and other environmental factors. As such, HSPs and their associated genes may be a promising target for interventions aimed at promoting healthy aging and extending lifespan. Some unfavorable variants in HSP genes have been shown to reduce the ability of cells to respond to stress, leading to increased damage and inflammation.

+
RSIDPopulationGene Your genotypeRef alleleAlt alleleZygosity Weight
+
rs1043618multiple HSPA1A G/GGGhom0.19

Identification of Crucial Genotypes

Beneficial Genotypes:

  • rs1043618 - HSPA1A (G/G): This genotype is associated with heat shock protein response, which may play a role in cellular protection and longevity.

Detrimental Genotypes:

  • None identified in the provided report.

Interactions Between Genotypes

The HSPA1A gene is known for its role in stress response. While no detrimental genotypes were identified, the presence of the G/G genotype may enhance the body's ability to cope with stressors, potentially mitigating risks associated with environmental factors.

Risk Assessment

Longevity Related Risks:

  • Current evidence does not indicate significant risks associated with the HSPA1A genotype for longevity.

General Risks:

  • There are no specific general risks identified based on the provided genotype.

Risk Reduction Strategies

To optimize health and longevity, consider the following recommendations:

  • Dietary Adjustments: Incorporate foods rich in antioxidants and anti-inflammatory properties, such as fruits, vegetables, and whole grains.
  • Lifestyle Changes: Engage in regular physical activity and stress management techniques, such as yoga or meditation, to enhance the body's resilience.
  • Medical Interventions: Regular health check-ups to monitor overall health and address any emerging concerns promptly.

Additional Insights

While the current report does not indicate any detrimental genotypes, it is essential to maintain a healthy lifestyle and monitor any changes in health status. Genetic predispositions can be influenced by environmental factors, and proactive health management is crucial.

Chronic inflammation is a major contributor to the aging process. Inflammation is a natural response of the immune system to harmful stimuli, such as pathogens or tissue damage. However, if this response becomes chronic, it can lead to tissue damage and the development of age-related diseases such as Alzheimer's disease, cardiovascular disease, and cancer.

Chronic inflammation is characterized by the sustained activation of the immune system and the release of pro-inflammatory molecules, such as cytokines, chemokines, and reactive oxygen species (ROS). These molecules can damage cellular components, including DNA, proteins, and lipids, leading to cellular dysfunction and death.

In addition, chronic inflammation can also activate other pathways involved in aging, such as the mTOR pathway and the senescence-associated secretory phenotype (SASP), which further exacerbate inflammation and tissue damage. Therefore, reducing chronic inflammation is a promising strategy to promote healthy aging and prevent age-related diseases.

Chronic inflammation can have a genetic component, with certain genes being associated with increased inflammation levels.

+
RSIDPopulationGene Your genotypeRef alleleAlt alleleZygosity Weight
+
rs2430561multiple IFNG T/TTThom-0.1075
+
rs590211American (Caucasian) PKNOX2 G/AAGhet0.07
+
rs2232548American (Caucasian) KLRF1 T/GGThet0.07
+
rs205499American (Caucasian) TRIM25 A/GGAhet0.07
+
rs6997589American (Caucasian) SH2D4A A/GGAhet0.07
+
rs4648884American (Caucasian) RUNX3 C/TTChet0.08
+
rs9517320American (Caucasian) STK24 C/AAChet0.08
+
rs2251252Italian (Southern) SDC4 A/GGAhet0.09
+
rs1981429Italian (Southern) SDC4 T/GGThet0.09
+
rs1450741Korean LYN C/TTChet0.09
+
rs2072454Korean EGFR T/CCThet0.1
+
rs73598374Italian (Central) ADA T/CCThet0.115
+
rs10491334Italian CAMK4 C/CCChom0.12
+
rs739401American (Caucasian) CARS C/CCChom0.13
+
rs3804474American (Caucasian) LY86 T/TCThom0.14
+
rs3780223American (Caucasian) ADAMTSL1 C/CCChom0.14
+
rs7800926American (Caucasian) CDK14 G/GGGhom0.14
+
rs4751140American (Caucasian) EBF3 T/TTThom0.14
+
rs4647992American (Caucasian) NFKB1 C/CCChom0.14
+
rs2963154American (Caucasian) NR3C1 T/TTThom0.14
+
rs8083511American (Caucasian) TNFRSF11A A/AAAhom0.14
+
rs4952085American (Caucasian) XDH G/GGGhom0.14
+
rs1546518Korean LYN C/CGChom0.18
+
rs3968371Korean LYN A/AAAhom0.18
+
rs1027989Korean LYN G/GGGhom0.18
+
rs5744256Italian IL18 G/GAGhom0.2
+
rs2293347Korean EGFR C/CCChom0.2
+
rs2280789Spanish CCL5 A/AAAhom0.26
+
rs282070Italian (Southern) MAP3K7 C/CCChom0.27
+
rs1800795multiple IL6 C/CCChom0.6

Identification of Crucial Genotypes

Beneficial Genotypes:

  • rs5744256 (IL18): The C allele is associated with reduced serum concentrations and shorter walk times, indicating better physical function in old age. NCBI Link
  • rs73598374 (ADA): This SNP is significantly associated with human life-expectancy in males. NCBI Link
  • rs2251252 (SDC4): Positively correlated with longevity and high LDL-C levels. NCBI Link
  • rs282070 (MAP3K7): The C allele carriers showed an increased chance to attain longevity. NCBI Link

Detrimental Genotypes:

  • rs2430561 (IFNG): The +874T allele is associated with low IFN-gamma production and is found less frequently in centenarian women. NCBI Link

Interactions Between Genotypes

There are no specific interactions between the provided genotypes that amplify or mitigate risks. However, the presence of multiple beneficial genotypes related to longevity (e.g., rs5744256, rs73598374, rs2251252, rs282070) suggests a cumulative positive effect on lifespan.

Risk Assessment

Longevity Related Risks:

  • rs2430561 (IFNG): The +874T allele is associated with lower IFN-gamma production, which may negatively impact longevity, especially in women.

General Risks:

  • rs73598374 (ADA): Mutations in this gene are linked to severe combined immunodeficiency disease (SCID), which affects immune function.

Risk Reduction Strategies

To mitigate the risks associated with the identified detrimental genotypes, consider the following strategies:

  • For rs2430561 (IFNG): Enhance immune function through a balanced diet rich in antioxidants, regular exercise, and possibly immune-boosting supplements.
  • For rs73598374 (ADA): Regular monitoring of immune function and early intervention in case of infections or immune-related issues.

Additional Insights

The presence of multiple beneficial genotypes related to longevity suggests a favorable genetic predisposition for a longer lifespan. Maintaining a healthy lifestyle, including a balanced diet, regular physical activity, and regular health check-ups, can further enhance the positive effects of these genotypes.

Genome maintenance and post-transcriptional processes are both important for maintaining cellular and organismal homeostasis, and both have been implicated in the regulation of longevity.

Genome maintenance is essential for preventing DNA damage and mutations that can lead to age-related diseases and shortened lifespans. Post-transcriptional processes, including RNA splicing, translation, and decay, are important for regulating gene expression and ensuring that proteins are produced at the appropriate levels and times. Dysregulation of these processes can lead to age-related diseases and shortened lifespans.

+
RSIDPopulationGene Your genotypeRef alleleAlt alleleZygosity Weight
+
rs2805533Italian, Ashkenazi Jewish and Japanese ADARB2 A/AGAhom-0.35
+
rs2485662American (Caucasians), Italian (Southern), French, Ashkenazi Jewish LMNA C/CTChom-0.27
+
rs414743Italian, Ashkenazi Jewish and Japanese ADARB1 A/GGAhet-0.175
+
rs701176American (Caucasian) PCNX2 A/GGAhet0.07
+
rs6732163American (Caucasian) BABAM2 G/AAGhet0.07
+
rs6443429American (Caucasian) TBL1XR1 C/AAChet0.07
+
rs1800392American (Caucasian) WRN T/GGThet0.078
+
rs8003961American (Caucasian) DLGAP5 A/AAAhom0.14
+
rs10510828American (Caucasian) FHIT A/AAAhom0.14
+
rs3817530American (Caucasian) UBE2H T/TTThom0.14
+
rs4149965multiple EXO1 G/GGGhom0.145
+
rs9876781American (Caucasian) ATRIP A/AAAhom0.16
+
rs2838816Italian, Ashkenazi Jewish and Japanese ADARB1 A/GGAhet0.175
+
rs3024239American (Caucasian) WRN T/CCThet0.195
+
rs2953983Danish POLB G/GGGhom0.22
+
rs13320360Danish MLH1 T/TTThom0.24
+
rs1776180multiple EXO1 C/CCChom0.29
+
rs3816754American (Caucasian) RAD51D G/GGGhom0.33
+
rs1805329Danish RAD23B C/CCChom0.33
+
rs2838809Italian, Ashkenazi Jewish and Japanese ADARB1 C/CCChom0.35
+
rs884949Italian, Ashkenazi Jewish and Japanese ADARB2 C/CCChom0.35
+
rs3898610Italian, Ashkenazi Jewish and Japanese ADARB2 T/TTThom0.35
+
rs2805562Italian, Ashkenazi Jewish and Japanese ADARB2 G/GGGhom0.35
+
rs2805543Italian, Ashkenazi Jewish and Japanese ADARB2 T/TTThom0.35
+
rs2805535Italian, Ashkenazi Jewish and Japanese ADARB2 T/TTThom0.35
+
rs2676192Italian, Ashkenazi Jewish and Japanese ADARB2 C/CCChom0.35
+
rs2387653Italian, Ashkenazi Jewish and Japanese ADARB2 C/CCChom0.35
+
rs17294019Italian, Ashkenazi Jewish and Japanese ADARB2 C/CCChom0.35
+
rs1533484Italian, Ashkenazi Jewish and Japanese ADARB2 C/CCChom0.35
+
rs10903420Italian, Ashkenazi Jewish and Japanese ADARB2 A/AAAhom0.35
+
rs1007147Italian, Ashkenazi Jewish and Japanese ADARB2 T/TTThom0.35

Identification of Crucial Genotypes

Beneficial Genotypes:

1. rs2838809 (ADARB1): This SNP is associated with extreme old age in various populations, including Italian, Ashkenazi Jewish, and Japanese. The genotype C/C is considered beneficial for longevity. NCBI Link

2. rs884949 (ADARB2): This SNP is also associated with extreme old age. The genotype C/C is considered beneficial for longevity. NCBI Link

3. rs3816754 (RAD51D): This SNP is associated with longevity in American (Caucasian) populations. The genotype G/G is considered beneficial. NCBI Link

4. rs1776180 (EXO1): This SNP is associated with longevity, particularly in female centenarians. The genotype C/C is considered beneficial. NCBI Link

Detrimental Genotypes:

1. rs2485662 (LMNA): This SNP is associated with several diseases, including muscular dystrophy and progeria syndrome. The genotype C/C is considered detrimental. NCBI Link

2. rs2805533 (ADARB2): This SNP is associated with extreme old age but has mixed results. The genotype A/A is considered detrimental. NCBI Link

3. rs414743 (ADARB1): This SNP is associated with extreme old age but has mixed results. The genotype A/G is considered detrimental. NCBI Link

Interactions Between Genotypes

The interaction between beneficial and detrimental genotypes in the ADARB1 and ADARB2 genes could potentially mitigate or amplify the risks associated with longevity. For example, having both beneficial (rs2838809) and detrimental (rs2805533) genotypes in ADARB1 and ADARB2 may balance out the overall risk for longevity.

Risk Assessment

Longevity Related Risks:

1. rs2485662 (LMNA): Increased risk for diseases like muscular dystrophy and progeria syndrome, which can affect longevity.

2. rs2805533 (ADARB2): Mixed results in association with extreme old age, indicating a potential risk for reduced longevity.

General Risks:

1. rs414743 (ADARB1): Mixed results in association with extreme old age, indicating a potential risk for various age-related conditions.

Risk Reduction Strategies

1. Lifestyle Changes: Regular physical activity and a balanced diet rich in antioxidants can help mitigate the risks associated with detrimental genotypes.

2. Medical Interventions: Regular health check-ups and early screening for diseases associated with detrimental genotypes (e.g., muscular dystrophy) can help in early intervention and management.

Additional Insights

The presence of multiple beneficial genotypes in the ADARB1 and ADARB2 genes suggests a strong genetic predisposition for longevity. However, the presence of detrimental genotypes in the same genes indicates the need for a balanced approach to health management.

Although many genes associated with longevity can be classified into 11 definite pathways, there are other genes that do not fall into these categories, which are presented in this table.

+
RSIDPopulationGene Your genotypeRef alleleAlt alleleZygosity Weight
+
rs3847663American A/GGAhet0.025
+
rs1733676American A/AGAhom0.05
+
rs2024714American (Caucasian) CDH4 T/CCThet0.065
+
rs2826891American (Caucasian) NCAM2 T/CCThet0.065
+
rs2032563American (Caucasian) CAMTA1 A/GGAhet0.07
+
rs10489436American (Caucasian) G/AAGhet0.07
+
rs11211037American (Caucasian) BTBD19 C/AAChet0.07
+
rs10923673American (Caucasian) G/TTGhet0.07
+
rs12043001American (Caucasian) C/TTChet0.07
+
rs4285687American (Caucasian) A/GGAhet0.07
+
rs6657655American (Caucasian) LOC105373215 T/CCThet0.07
+
rs2247549American (Caucasian) G/AAGhet0.07
+
rs4237774American (Caucasian) LOC107984303 A/GGAhet0.07
+
rs1834461American (Caucasian) G/AAGhet0.07
+
rs563384American (Caucasian) TENM4 G/AAGhet0.07
+
rs1470196American (Caucasian) A/GGAhet0.07
+
rs11063009American (Caucasian) A/GGAhet0.07
+
rs855137American (Caucasian) C/TTChet0.07
+
rs2660888American (Caucasian) G/AAGhet0.07
+
rs697887American (Caucasian) LINC02463 G/AAGhet0.07
+
rs1340573American (Caucasian) A/GGAhet0.07
+
rs9652250American (Caucasian) T/CCThet0.07
+
rs9513192American (Caucasian) A/CCAhet0.07
+
rs7149754American (Caucasian) LOC105370656 G/AAGhet0.07
+
rs10518725American (Caucasian) WDR72 A/GGAhet0.07
+
rs1280396American (Caucasian) CGNL1 G/AAGhet0.07
+
rs12446827American (Caucasian) G/AAGhet0.07
+
rs1005321American (Caucasian) HS3ST3B1 A/GGAhet0.07
+
rs2880540American (Caucasian) G/AAGhet0.07
+
rs8073559American (Caucasian) G/AAGhet0.07
+
rs9894254American (Caucasian) SGSH T/CCThet0.07
+
rs12606250American (Caucasian) T/CCThet0.07
+
rs2927261American (Caucasian) C/TTChet0.07
+
rs7246865American (Caucasian) MYO9B A/GGAhet0.07
+
rs11687681American (Caucasian) A/GGAhet0.07
+
rs401974American (Caucasian) C/TTChet0.07
+
rs3769583American (Caucasian) TTC27 T/CCThet0.07
+
rs2901840American (Caucasian) A/CCAhet0.07
+
rs12623542American (Caucasian) LINC01237 G/TTGhet0.07
+
rs2866705American (Caucasian) C/TTChet0.07
+
rs2253363American (Caucasian) A/GGAhet0.07
+
rs5754682American (Caucasian) LARGE1 T/CCThet0.07
+
rs12634249American (Caucasian) SUMF1 A/CCAhet0.07
+
rs751481American (Caucasian) G/AAGhet0.07
+
rs922943American (Caucasian) RARB A/GGAhet0.07
+
rs1550765American (Caucasian) G/AAGhet0.07
+
rs10084768American (Caucasian) LINC01182 A/GGAhet0.07
+
rs828154American (Caucasian) A/GGAhet0.07
+
rs358256American (Caucasian) GBA3 C/TTChet0.07
+
rs2660342American (Caucasian) G/AAGhet0.07
+
rs1230155American (Caucasian) A/GGAhet0.07
+
rs2553377American (Caucasian) A/CCAhet0.07
+
rs4461634American (Caucasian) G/AAGhet0.07
+
rs2432143American (Caucasian) ITGA1 C/TTChet0.07
+
rs158807American (Caucasian) G/TTGhet0.07
+
rs147295American (Caucasian) C/TTChet0.07
+
rs9324976American (Caucasian) C/AAChet0.07
+
rs514217American (Caucasian) G/AAGhet0.07
+
rs4245543American (Caucasian) T/CCThet0.07
+
rs11153598American (Caucasian) NT5DC1 A/CCAhet0.07
+
rs1858897American (Caucasian) G/AAGhet0.07
+
rs2738173American (Caucasian) G/AAGhet0.07
+
rs804283American (Caucasian) GATA4 A/GGAhet0.07
+
rs899430American (Caucasian) G/AAGhet0.07
+
rs4871976American (Caucasian) PHYHIP A/GGAhet0.07
+
rs7825208American (Caucasian) FGFR1 G/AAGhet0.07
+
rs1812736American (Caucasian) A/GGAhet0.07
+
rs12353067American (Caucasian) T/CCThet0.07
+
rs2590504American (Caucasian) PPP1R26-AS1 T/CCThet0.08
+
rs10149689Ashkenazi Jewish CEP128 G/AAGhet0.085
+
rs12050077Ashkenazi Jewish CEP128 A/GGAhet0.085
+
rs2498804Dutch LOC107987209 A/CCAhet0.095
+
rs1468772American (Caucasians), Italian (Southern), French, Ashkenazi Jewish SEMA4A G/GTGhom0.1
+
rs205990American (Amish) LOC105378102 G/GAGhom0.1
+
rs519007German G/GGGhom0.1
+
rs7799039Jordanian LOC105375494 A/GGAhet0.115
+
rs10256972American (Caucasian) C7orf50 A/AAAhom0.13
+
rs2370413American (Caucasian) CACNA1C T/TTThom0.13
+
rs1834497American (Caucasian) CLSTN2 A/AAAhom0.13
+
rs12129750American (Caucasian) G/GAGhom0.14
+
rs12737127American (Caucasian) LOC105373220 C/CAChom0.14
+
rs4933309American (Caucasian) C/CTChom0.14
+
rs11218921American (Caucasian) LOC341056 C/CTChom0.14
+
rs2722222American (Caucasian) T/TCThom0.14
+
rs2014547American (Caucasian) T/TCThom0.14
+
rs2543356American (Caucasian) C/CTChom0.14
+
rs7155817American (Caucasian) G/GAGhom0.14
+
rs2277509American (Caucasian) CCDC88C A/ACAhom0.14
+
rs8098316American (Caucasian) G/GTGhom0.14
+
rs9304496American (Caucasian) KCTD1 T/TCThom0.14
+
rs11086106American (Caucasian) PGPEP1 T/TCThom0.14
+
rs1974676American (Caucasian) HPCAL1 G/GAGhom0.14
+
rs4363980American (Caucasian) LOC105373714 G/GTGhom0.14
+
rs1463990American (Caucasian) LOC107985988 A/AGAhom0.14
+
rs6115865American (Caucasian) C20orf194 T/TCThom0.14
+
rs3904864American (Caucasian) G/GAGhom0.14
+
rs2201186American (Caucasian) LOC107986178 A/AGAhom0.14
+
rs4073968American (Caucasian) LINC01258 T/TCThom0.14
+
rs975072American (Caucasian) G/GAGhom0.14
+
rs1490813American (Caucasian) C/CTChom0.14
+
rs6580511American (Caucasian) A/AGAhom0.14
+
rs303006American (Caucasian) CMAHP G/GAGhom0.14
+
rs6946852American (Caucasian) T/TCThom0.14
+
rs6991271American (Caucasian) KIF13B G/GTGhom0.14
+
rs567971American (Caucasian) C/CTChom0.14
+
rs829751American (Caucasian) G/GAGhom0.14
+
rs1016013American (Caucasian) G/GAGhom0.14
+
rs924584American (Caucasian) T/TTThom0.14
+
rs8080728American (Caucasian) G/GGGhom0.14
+
rs8069437American (Caucasian) T/TTThom0.14
+
rs8003056American (Caucasian) T/TTThom0.14
+
rs7505612American (Caucasian) A/AAAhom0.14
+
rs793017American (Caucasian) ERGIC1 G/GGGhom0.14
+
rs933664American (Caucasian) GSG1L A/AAAhom0.14
+
rs10210870American (Caucasian) LINC01250 C/CCChom0.14
+
rs15606American (Caucasian) LINC02032 T/TTThom0.14
+
rs3803833American (Caucasian) LINC02095 T/TTThom0.14
+
rs337656American (Caucasian) LINC02391 C/CCChom0.14
+
rs2158860American (Caucasian) LOC101927668 A/AAAhom0.14
+
rs2061450American (Caucasian) LOC105372161 G/GGGhom0.14
+
rs10505391American (Caucasian) LOC105375731 C/CCChom0.14
+
rs4802234American (Caucasian) LOC107985305 T/TTThom0.14
+
rs3886917American (Caucasian) LOC107986178 C/CCChom0.14
+
rs12960908American (Caucasian) LOC400655 T/TTThom0.14
+
rs9554632American (Caucasian) MIR4500HG T/TTThom0.14
+
rs10190125American (Caucasian) MYT1L G/GGGhom0.14
+
rs894558American (Caucasian) NAV2 C/CCChom0.14
+
rs9530108American (Caucasian) NBEA A/AAAhom0.14
+
rs249904American (Caucasian) PPP2R2B T/TTThom0.14
+
rs4596036American (Caucasian) PREX1 G/GGGhom0.14
+
rs7857137American (Caucasian) PTAR1 A/AAAhom0.14
+
rs2596230American (Caucasian) RYR3 T/TTThom0.14
+
rs10055012American (Caucasian) SEMA6A T/TTThom0.14
+
rs7959761American (Caucasian) BHLHE41 T/TTThom0.14
+
rs2116538American (Caucasian) THSD7B G/GGGhom0.14
+
rs524533American (Caucasian) TMEM151B C/CCChom0.14
+
rs6984496American (Caucasian) XKR6 G/GGGhom0.14
+
rs4240673American (Caucasian) XKR6 T/TTThom0.14
+
rs11005328American (Caucasian) ZWINT C/CCChom0.14
+
rs4771711American (Caucasian) A/AAAhom0.14
+
rs4722094American (Caucasian) T/TTThom0.14
+
rs346119American (Caucasian) T/TTThom0.14
+
rs303542American (Caucasian) G/GGGhom0.14
+
rs277432American (Caucasian) C/CCChom0.14
+
rs2679234American (Caucasian) C/CCChom0.14
+
rs2604294American (Caucasian) T/TTThom0.14
+
rs2331101American (Caucasian) C/CCChom0.14
+
rs1822590American (Caucasian) C/CCChom0.14
+
rs1581035American (Caucasian) G/GGGhom0.14
+
rs1411552American (Caucasian) A/AAAhom0.14
+
rs1368774American (Caucasian) A/AAAhom0.14
+
rs13125710American (Caucasian) G/GGGhom0.14
+
rs12121466American (Caucasian) A/AAAhom0.14
+
rs1189843American (Caucasian) G/GGGhom0.14
+
rs11610554American (Caucasian) C/CCChom0.14
+
rs11601702American (Caucasian) A/AAAhom0.14
+
rs10863373American (Caucasian) G/GGGhom0.14
+
rs10498342American (Caucasian) C/CCChom0.14
+
rs10229977American (Caucasian) T/TTThom0.14
+
rs432203American (Caucasian) TGFA C/CCChom0.16
+
rs4646Italian (Salerno) CYP19A1 A/AAAhom0.18
+
rs28933981Danish TTR C/CCChom0.19
+
rs3906146American (Caucasian) LMX1B C/CCChom0.2
+
rs4541274American (Caucasian) CTNNA2 C/TTChet0.205
+
rs723525American (Caucasian) CTNNA2 G/AAGhet0.205
+
rs978739Italian (Southern) TAS2R16 T/TTThom0.24
+
rs3851179multiple PICALM T/TTThom0.34
+
rs7656234American (Caucasian) SLC4A4 T/TCThom0.37
+
rs1860242American (Caucasian) CTNND2 G/GAGhom0.41

Identification of Crucial Genotypes

Beneficial Genotypes:

rs7656234 (SLC4A4): This SNP is associated with a positive influence on health, with a weight of 0.37. The SLC4A4 gene encodes a sodium bicarbonate cotransporter involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. More info on rs7656234.

rs1860242 (CTNND2): This SNP is associated with a positive influence on health, with a weight of 0.41. The CTNND2 gene encodes an adhesive junction-associated protein implicated in brain and eye development and cancer formation. More info on rs1860242.

Detrimental Genotypes:

rs2277509 (CCDC88C): This SNP is associated with a negative influence on health, with a weight of 0.14. The CCDC88C gene is involved in the regulation of the Wnt signaling pathway and mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus. More info on rs2277509.

rs1468772 (SEMA4A): This SNP is associated with a negative influence on health, with a weight of 0.1. The SEMA4A gene is involved in the immune response and mutations in this gene are associated with various immune-related conditions. More info on rs1468772.

Interactions Between Genotypes

The interaction between beneficial and detrimental genotypes can influence overall health outcomes. For instance, the presence of beneficial genotypes like rs7656234 (SLC4A4) and rs1860242 (CTNND2) may mitigate some of the risks posed by detrimental genotypes such as rs2277509 (CCDC88C) and rs1468772 (SEMA4A). However, the exact nature of these interactions would require further study.

Risk Assessment

Longevity Related Risks:

rs2277509 (CCDC88C): This SNP is associated with a risk of congenital hydrocephalus, which can impact overall longevity due to complications arising from the condition.

rs1468772 (SEMA4A): This SNP is associated with immune-related conditions, which can affect longevity by increasing susceptibility to infections and autoimmune diseases.

General Risks:

rs2277509 (CCDC88C): This SNP is associated with a risk of congenital hydrocephalus, which can lead to developmental delays and neurological issues.

rs1468772 (SEMA4A): This SNP is associated with immune-related conditions, which can lead to chronic inflammation and other health issues.

Risk Reduction Strategies

For rs2277509 (CCDC88C): Regular monitoring and early intervention for signs of hydrocephalus can help manage the condition. Surgical options like shunt placement can alleviate symptoms and improve quality of life.

For rs1468772 (SEMA4A): Maintaining a healthy immune system through a balanced diet, regular exercise, and avoiding known allergens can help mitigate risks. Regular check-ups with an immunologist can also be beneficial.

Additional Insights

The presence of beneficial genotypes like rs7656234 (SLC4A4) and rs1860242 (CTNND2) suggests a potential for better regulation of pH balance and cellular adhesion, which can contribute to overall health and longevity. These genotypes may offer some protective effects against the detrimental impacts of other SNPs.

Longevity drugs

Plenty of drugs are frequently prescribed at an older age. Moreover, some drugs are known to have geroprotective action (e.g. statins, metformin, rapamycin, etc.). Drug metabolism to a large extent depends on a person’s genetic polymorphisms, affecting the activity of xenobiotics-transforming enzymes. So it’s a common situation when individual dose correction is needed, or even another drug has to be taken in order to avoid adverse effects. Longevity-drugs report is mainly based on data from PharmGKB database ( https://www.pharmgkb.org/ ) and DrugAge.

In the table you can find data about your genome’s gene variants, associated with a changed response to the drugs.

# Variant/
Haplotypes
Drug(s)Phenotype CategorySignificanceSentenceAllele Of Frequency In Cases Allele Of Frequency In ControlsRatio Stat TypeEffect
1rs2284018 lithiumEfficacy yes Genotype TT is associated with decreased response to lithium in people with Bipolar Disorder as compared to genotypes CC + CT. OR9.091
2rs7316769 duloxetineEfficacy yes Allele G is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele T. OR7.692
3rs10771999 duloxetineEfficacy yes Allele C is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele G. OR7.692
4rs5441 sertralineEfficacy yes Genotype GG is associated with increased response to sertraline in people with Depressive Disorder, Major as compared to genotypes AA + AG.G OR5.9
5rs7306991 duloxetineEfficacy yes Allele A is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele T. OR5.882
6rs10771997 duloxetineEfficacy yes Allele T is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele C. OR5.882
7rs10771998 duloxetineEfficacy yes Allele A is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele G. OR5.882
8rs12595802 duloxetineEfficacy yes Allele G is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele A. OR5.556
9rs12630569 duloxetineEfficacy yes Allele G is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele C. OR5.556
10rs4513095 sofosbuvirEfficacy yes Allele A is associated with decreased response to sofosbuvir in people with Hepatitis C, Chronic as compared to allele C.AA OR5.54
11rs7563206 methotrexateEfficacy yes Genotypes CT + TT is associated with decreased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype CC.CC OR5.0
12rs7787082 clozapineEfficacy yes Allele G is associated with decreased response to clozapine in people with Schizophrenia as compared to allele A.A OR4.87
13rs3087403 cisplatinEfficacy yes Genotypes CT + TT are associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype CC.T OR4.44
14rs1056827 risperidoneEfficacy no Allele A is associated with decreased response to risperidone in people with Schizophrenia as compared to allele C.AA OR4.37
15rs243865 ulinastatinEfficacy yes Allele T is associated with decreased response to ulinastatin in people with Pancreatitis as compared to allele C.TT OR4.121
16rs622342 metforminEfficacy yes Genotypes AC + CC is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to genotype AA.A OR4.1
17rs11591741 ustekinumabEfficacy yes Genotypes CC + CG is associated with increased response to ustekinumab in people with Psoriasis as compared to genotype GG. OR33.333
18rs1801133 fluorouracilEfficacy yes Genotypes AA + AG is associated with increased response to fluorouracil in people with Colorectal Neoplasms as compared to genotype GG.A OR3.8
19rs4437856 duloxetineEfficacy yes Allele A is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele C. OR3.704
20rs2419128 duloxetineEfficacy yes Allele C is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele T. OR3.704
21rs12094644 duloxetineEfficacy yes Allele T is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele A. OR3.704
22rs1883112 idarubicinEfficacy yes Genotype AA is associated with increased response to idarubicin in people with Leukemia, Myeloid, Acute as compared to genotype GG.A OR3.7
23rs4633 risperidoneEfficacy no Allele T is associated with decreased response to risperidone in people with Schizophrenia as compared to allele C.TT OR3.56
24rs10007051 duloxetineEfficacy yes Allele C is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele T. OR3.448
25rs11933890 duloxetineEfficacy yes Allele A is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele G. OR3.333
26rs62319299 duloxetineEfficacy yes Allele A is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele C. OR3.333
27rs56229625 duloxetineEfficacy yes Allele G is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele T. OR3.333
28rs55881666 duloxetineEfficacy yes Allele C is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele T. OR3.333
29rs4639250 duloxetineEfficacy yes Allele G is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele C. OR3.333
30rs12657120 duloxetineEfficacy yes Allele G is associated with decreased response to duloxetine in people with Depressive Disorder, Major as compared to allele C. OR3.226
31rs10012 risperidoneEfficacy no Allele C is associated with decreased response to risperidone in people with Schizophrenia as compared to allele G.CC OR3.16
32rs2270007 citalopramEfficacy yes Genotypes CC + CG are associated with decreased response to citalopram in people with Depressive Disorder, Major as compared to genotype GG.CC OR2.93
33rs8636 amisulprideEfficacy yes Genotype CT is associated with increased response to amisulpride in people with Schizophrenia as compared to genotypes CC + TT.CC OR2.91
34rs6498169 glatiramer acetateEfficacy yes Allele A is associated with increased response to glatiramer acetate in people with Multiple Sclerosis as compared to allele G.AA OR2.86
35rs2284017 lithiumEfficacy not stated Allele C is associated with increased response to lithium in people with Bipolar Disorder as compared to allele T. OR2.857
36rs316019 metforminEfficacy yes Genotypes AA + AC is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to genotype CC.AA OR2.857
37rs1695 cyclophosphamideEfficacy no Genotypes AG + GG is associated with decreased response to cyclophosphamide in people with Lupus Nephritis as compared to genotype AA.GG OR2.8
38rs3749442 cannabidiolEfficacy yes Genotypes AA + AG are associated with decreased response to cannabidiol in people with Epilepsy as compared to genotype GG. OR2.778
39rs2114358 glatiramer acetateEfficacy yes Allele A is associated with increased response to glatiramer acetate in people with Multiple Sclerosis as compared to allele G.AA OR2.77
40rs11869731 lithiumEfficacy yes Genotype CC is associated with increased response to lithium in people with Bipolar Disorder as compared to genotypes CG + GG.CC OR2.39
41rs4818 risperidoneEfficacy no Allele G is associated with increased response to risperidone in people with Schizophrenia as compared to allele C.CC OR2.381
42rs3747178 ethosuximideEfficacy yes Allele T is associated with decreased clinical benefit to ethosuximide in children with Epilepsy as compared to allele C.TT OR2.38
43rs1800469 glatiramer acetateEfficacy yes Allele A is associated with decreased response to glatiramer acetate in people with Multiple Sclerosis as compared to allele G.AA OR2.326
44rs165599 bupropionEfficacy yes Genotypes AA + AG are associated with increased response to bupropion in smokers as compared to genotype GG.A OR2.21
45rs35068180 pravastatinEfficacy yes Genotypes A/del + AA are associated with increased response to pravastatin in men with Coronary Artery Disease. OR2.174
46rs1801058 metoprololEfficacy yes Genotype CT is associated with decreased response to metoprolol in women with hypertensive nephrosclerosis as compared to genotype CC. HR2.174
47rs2631372 imatinibEfficacy yes Genotypes CG + GG are associated with increased response to imatinib in people with Gastrointestinal Stromal Tumors as compared to genotype CC. HR2.174
48rs680244 Drugs used in nicotine dependenceOther yes Allele T is associated with increased response to Drugs used in nicotine dependence in people with Tobacco Use Disorder. HR2.083
49rs616147 creatineEfficacy yes Genotypes AA + AG are associated with increased response to creatine in people with Amyotrophic Lateral Sclerosis as compared to genotype GG.A HR2.083
50rs1495741 iguratimodEfficacy yes Genotypes AG + GG is associated with decreased clinical benefit to iguratimod in people with Arthritis, Rheumatoid as compared to genotype AA.GG OR2.008
51rs1012335 glatiramer acetateEfficacy yes Allele G is associated with decreased response to glatiramer acetate in people with Multiple Sclerosis as compared to allele C.GG OR13.889
52rs11042725 paroxetineEfficacy yes Genotype CC is associated with decreased response to paroxetine in people with Depressive Disorder, Major as compared to genotypes AA + AC. OR13.333
53rs9923231 acenocoumarolDosage yes Genotype TT is associated with decreased dose of acenocoumarol as compared to genotypes CC + CT.T OR11.6
54rs1329428 ranibizumabEfficacy no Allele C is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele T. OR1.961
55rs3763980 methotrexateEfficacy yes Allele A is associated with decreased response to methotrexate in children with Arthritis, Juvenile Rheumatoid as compared to allele T. OR1.887
56rs10033900 ranibizumabEfficacy no Allele C is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele T. OR1.887
57rs3781719 botulinum toxin type aEfficacy yes Allele G is associated with decreased response to botulinum toxin type a in women with Migraine NOS as compared to allele A.GG OR1.88
58rs2631370 imatinibDosage no Allele C is not associated with dose of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele T.C OR1.87
59rs2010963 imatinibDosage no Allele C is not associated with dose of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele G.C OR1.852
60rs2804402 methotrexateToxicity no Allele A is not associated with discontinuation of methotrexate in people with Arthritis, Rheumatoid as compared to allele G.G HR1.79
61rs1800544 methylphenidateEfficacy no Allele G is associated with decreased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity as compared to allele C. OR1.786
62rs6990851 anastrozoleEfficacy yes Allele G is associated with increased response to anastrozole in women with Breast Neoplasms as compared to allele A. HR1.786
63rs8109525 bupropionEfficacy yes Genotype GG is associated with increased response to bupropion in people with Tobacco Use Disorder as compared to genotypes AA + AG.G OR1.78
64rs1410996 ranibizumabEfficacy no Allele A is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele G. OR1.754
65rs2032582 imatinibEfficacy no Allele T is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to allele A.GA OR1.754
66rs2032582 imatinibEfficacy no Allele T is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to allele A.GA OR1.754
67rs7574865 adalimumabEfficacy no Allele T is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to allele G.T OR1.724
68rs628031 imatinibEfficacy yes Genotypes AA + AG is associated with decreased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype GG. OR1.724
69rs2229437 benazeprilEfficacy yes Genotypes GG + GT are associated with decreased response to benazepril in people with Hypertension as compared to genotype TT.T OR1.667
70rs10737680 ranibizumabEfficacy no Allele A is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele C. OR1.613
71rs12231740 methotrexateEfficacy yes Allele T is associated with decreased response to methotrexate in children with Arthritis, Juvenile Rheumatoid as compared to allele C. OR1.587
72rs20455 pravastatinEfficacy yes Genotypes AG + GG are associated with increased response to pravastatin in people with Myocardial Infarction as compared to genotype AA. HR1.587
73rs2236259 methadoneEfficacy no Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele T.T OR1.587
74rs3204953 cisplatinEfficacy no Genotypes CT + TT are not associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype CC.T OR1.56
75rs3212986 cisplatinEfficacy yes Allele A is associated with decreased response to cisplatin in women with Ovarian Neoplasms as compared to allele C.A OR1.53
76rs249429 metforminEfficacy no Allele T is not associated with response to metformin in people with Diabetes Mellitus as compared to allele C.CT OR1.471
77rs3852209 nicotineEfficacy yes Genotypes CT + TT are associated with increased response to nicotine in people with Tobacco Use Disorder as compared to genotype CC.T OR1.46
78rs7905446 nortriptylineEfficacy no Genotype TT is not associated with response to nortriptyline in people with Depression as compared to genotypes GG + GT. OR1.441
79rs2494732 risperidoneEfficacy no Allele T is not associated with response to risperidone in people with Schizophrenia as compared to allele C.TT OR1.414
80rs274717 gemcitabineEfficacy no Genotypes AG + GG are associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotype AA. HR1.408
81rs2960306 metoprololEfficacy no Genotype TT is not associated with decreased response to metoprolol in women with hypertensive nephrosclerosis as compared to genotype GG. HR1.389
82rs2811332 lithiumEfficacy no Allele C is not associated with response to lithium in people with Bipolar Disorder as compared to allele G.CC OR1.36
83rs2236256 methadoneEfficacy no Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele A.A OR1.35
84rs3736544 lithiumEfficacy no Allele A is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele G.A OR1.333
85rs2082940 pioglitazoneEfficacy no Genotype CC are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotypes CT + TT.CT OR1.303
86rs16969968 nicotineOther no Allele A is not associated with exposure to nicotine in men as compared to allele G.A OR1.3
87rs2306283 atorvastatinEfficacy yes Genotype AA is associated with increased response to atorvastatin in people with Hypercholesterolemia as compared to genotypes AG + GG.G OR1.29
88rs8065082 metforminEfficacy yes Genotypes CT + TT is associated with increased response to metformin in people with Glucose Intolerance as compared to genotype CC. HR1.282
89rs1800797 peginterferon alfa-2aEfficacy yes Allele G is associated with decreased response to peginterferon alfa-2a in people with Hepatitis C, Chronic as compared to allele A. RR1.282
90rs1800796 peginterferon alfa-2aEfficacy yes Allele G is associated with decreased response to peginterferon alfa-2a in people with Hepatitis C, Chronic as compared to allele C. RR1.282
91rs1800795 peginterferon alfa-2aEfficacy yes Allele G is associated with decreased response to peginterferon alfa-2a in people with Hepatitis C, Chronic as compared to allele C. RR1.282
92rs6313 risperidoneEfficacy no Allele A is not associated with response to risperidone in people with Schizophrenia as compared to allele G.AA OR1.274
93rs699947 imatinibDosage no Allele C is not associated with dose of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele A.C OR1.27
94rs868755 imatinibDosage no Allele T is not associated with dose of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele G.T OR1.266
95rs1063538 pioglitazoneEfficacy no Genotypes CC + CT are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype TT.CT OR1.255
96rs1800532 venlafaxineEfficacy no Allele G is not associated with response to venlafaxine in people with Depressive Disorder, Major as compared to allele T. OR1.25
97rs12205732 methadoneDosage no Allele A is not associated with dose of methadone in people with Heroin Dependence as compared to allele G.A OR1.242
98rs762551 imatinibDosage yes Genotype CC is associated with decreased dose of imatinib in people with Gastrointestinal Stromal Tumors as compared to genotypes AA + AC.C OR1.235
99rs2295553 methotrexateEfficacy no Allele C is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele T. OR1.235
100rs2740574 amlodipineEfficacy no Genotypes CT + TT are not associated with response to amlodipine in people with Hypertension as compared to genotype CC. HR1.235
101rs6280 clozapineEfficacy not stated Allele T is not associated with response to clozapine in people with Schizophrenia as compared to allele C. OR1.22
102rs17035723 acamprosateEfficacy no Allele T is not associated with response to acamprosate in people with Alcoholism as compared to allele C. HR1.22
103rs266729 pioglitazoneEfficacy no Genotype CC are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotypes CG + GG.GC OR1.219
104rs3774261 pioglitazoneEfficacy no Genotypes AG + GG are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype AA.GA OR1.209
105rs1329424 ranibizumabEfficacy no Allele G is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele T. OR1.205
106rs2278749 lithiumEfficacy no Allele T is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.T OR1.18
107rs11212617 metforminEfficacy no Allele C is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele A. OR1.163
108rs9828223 adalimumabEfficacy yes Allele T is associated with decreased response to adalimumab in people with Crohn Disease as compared to allele C.T OR1.16
109rs2231142 sulfasalazineOther no Allele T is not associated with discontinuation of sulfasalazine in people with Arthritis, Rheumatoid as compared to allele G.T HR1.15
110rs1042522 oxaliplatinEfficacy yes Genotypes CG + GG is associated with decreased response to oxaliplatin in people with Colorectal Neoplasms as compared to genotype CC.G HR1.136
111rs683369 imatinibDosage no Allele G is not associated with dose of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele C.G OR1.136
112rs3821799 pioglitazoneEfficacy no Genotypes CT + TT are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype CC.CT OR1.131
113rs2244500 methotrexateEfficacy no Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G. OR1.124
114rs6506569 methotrexateEfficacy no Allele C is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele T. OR1.124
115rs293983 belimumabEfficacy no Allele T is not associated with response to belimumab in people with Lupus erythematosus as compared to allele C. OR1.111
116rs1390913 lithiumEfficacy no Allele A is not associated with response to lithium in people with Bipolar Disorder as compared to allele G.AA OR1.11
117rs6495307 nicotineOther no Allele T is not associated with exposure to nicotine in men as compared to allele C.T OR1.1
118rs6347 methadoneDosage no Allele C is not associated with dose of methadone in people with Heroin Dependence as compared to allele T.C OR1.09
119rs2013169 methylphenidateEfficacy no Allele T is associated with decreased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity. OR1.087
120rs662 clopidogrelEfficacy no Genotypes CC + CT is not associated with response to clopidogrel in people with Acute coronary syndrome as compared to genotype TT.T HR1.087
121rs3808627 heroinDosage no Allele T is not associated with dose of heroin in people with Heroin Dependence as compared to allele C.T OR1.082
122rs1947274 methylphenidateEfficacy no Allele A is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele C. OR1.053
123rs6902403 methadoneEfficacy no Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele T.T OR1.053
124rs3212964 cisplatinEfficacy no Allele T is not associated with response to cisplatin in women with Ovarian Neoplasms as compared to allele C.T OR1.05
125rs4483927 risperidoneEfficacy no Allele G is not associated with response to risperidone in people with Schizophrenia as compared to allele T.GG OR1.033
126rs2071559 imatinibDosage no Allele A is not associated with dose of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele G.A OR1.02
127rs3393 methotrexateToxicity no Allele C is not associated with discontinuation of methotrexate in people with Arthritis, Rheumatoid as compared to allele T.C HR1.01
128rs11568817 venlafaxineEfficacy no Allele C is not associated with response to venlafaxine in people with Depressive Disorder, Major as compared to allele A. OR1.01
129rs2230199 eculizumabEfficacy no Genotypes CC + CG is not associated with response to eculizumab in people with paroxysmal nocturnal hemoglobinuria as compared to genotype GG.C OR1.0
130rs5836788 methotrexateEfficacy no Allele del is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C. OR1.0
131rs3827020 nicotineOther no Allele C is not associated with exposure to nicotine in men as compared to allele T.C OR1.0
132rs2072660 vareniclineEfficacy no Genotypes CT + TT are not associated with response to varenicline in people with Tobacco Use Disorder as compared to genotype CC. OR0.99
133rs1051740 carbamazepineEfficacy no Genotype TT is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes CC + CT.CT OR0.98
134rs1024323 metoprololEfficacy no Genotype CC is not associated with decreased response to metoprolol in women with hypertensive nephrosclerosis as compared to genotype TT. HR0.98
135rs1805054 risperidoneEfficacy no Allele T is not associated with response to risperidone in people with Schizophrenia as compared to allele C.TT OR0.973
136rs699517 methotrexateEfficacy no Allele T is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C. OR0.971
137rs9567746 venlafaxineEfficacy no Allele A is not associated with response to venlafaxine in people with Depressive Disorder, Major as compared to allele G. OR0.962
138rs3212961 cisplatinEfficacy no Allele A is not associated with response to cisplatin in women with Ovarian Neoplasms as compared to allele G.A OR0.962
139rs743572 abirateroneEfficacy no Genotypes AG + GG are not associated with response to abiraterone in men with Prostatic Neoplasms as compared to genotype AA.G HR0.96
140rs6912029 heroinDosage no Allele T is not associated with dose of heroin in people with Heroin Dependence as compared to allele G.T OR0.955
141rs3394 methotrexateToxicity no Allele C is not associated with discontinuation of methotrexate in people with Arthritis, Rheumatoid as compared to allele T.T HR0.952
142rs2234922 carbamazepineEfficacy no Genotype AA is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes AG + GG.AG OR0.952
143rs6296 venlafaxineEfficacy no Allele C is not associated with response to venlafaxine in people with Depressive Disorder, Major as compared to allele G. OR0.952
144rs6935207 imatinibDosage no Allele A is not associated with dose of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele G.A OR0.94
145rs6551665 methylphenidateEfficacy no Allele A is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele G. OR0.935
146rs1049305 cisplatinEfficacy no Genotypes CC + CG are not associated with response to cisplatin in people with Mesothelioma as compared to genotype GG. HR0.926
147rs228666 lithiumEfficacy no Allele C is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele T.C OR0.92
148rs2236257 methadoneEfficacy no Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele G.C OR0.92
149rs615470 nicotineOther no Allele T is not associated with exposure to nicotine in men as compared to allele C.T OR0.909
150rs228642 lithiumEfficacy no Allele C is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele T.C OR0.901
151rs2279287 lithiumEfficacy no Allele T is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.T OR0.901
152rs2631367 imatinibDosage no Allele C is not associated with dose of imatinib in people with Gastrointestinal Stromal Tumors as compared to allele G.G OR0.9
153rs12666409 methadoneDosage no Allele A is not associated with dose of methadone in people with Heroin Dependence as compared to allele T.A OR0.896
154rs5320 methadoneDosage no Allele A is not associated with dose of methadone in people with Heroin Dependence as compared to allele G.A OR0.895
155rs130058 venlafaxineEfficacy no Allele A is not associated with response to venlafaxine in people with Depressive Disorder, Major as compared to allele T. OR0.893
156rs4810083 metforminEfficacy no Allele T is not associated with response to metformin in people with Diabetes Mellitus as compared to allele C.CT OR0.89
157rs1136287 ranibizumabEfficacy no Allele C is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele T. OR0.885
158rs4343 sertralineEfficacy no Genotype GG is not associated with response to sertraline in people with Depressive Disorder.GG OR0.885
159rs2640909 lithiumEfficacy no Allele C is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele T.C OR0.88
160rs228729 lithiumEfficacy no Allele T is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.T OR0.877
161rs1045280 nicotineEfficacy no Allele C is not associated with response to nicotine in people with Tobacco Use Disorder as compared to allele T.C OR0.877
162rs2236196 vareniclineEfficacy no Genotypes AA + AG is not associated with response to varenicline in people with Tobacco Use Disorder as compared to genotype GG. OR0.87
163rs9322453 heroinDosage no Allele C is not associated with dose of heroin in people with Heroin Dependence as compared to allele G.C OR0.865
164rs129915 methadoneDosage no Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele A.G OR0.861
165rs27072 methadoneDosage no Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.T OR0.858
166rs6064463 methotrexateEfficacy no Allele C is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele T. OR0.855
167rs735482 cisplatinEfficacy no Allele C is not associated with response to cisplatin in women with Ovarian Neoplasms as compared to allele A.C OR0.85
168rs10011796 allopurinolEfficacy no Genotypes CT + TT are not associated with response to allopurinol in people with Gout as compared to genotype CC.CT OR0.85
169rs12529 abirateroneEfficacy no Genotypes CC + CG are not associated with response to abiraterone in men with Prostatic Neoplasms as compared to genotype GG.C HR0.847
170rs1800497 risperidoneEfficacy no Allele A is not associated with response to risperidone in people with Schizophrenia as compared to allele G.AA OR0.845
171rs4982133 methotrexateEfficacy no Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C. OR0.84
172rs316009 metforminEfficacy yes Genotype TT is associated with increased response to metformin in people with Diabetes Mellitus as compared to genotypes CC + CT. OR0.826
173rs1176713 risperidoneEfficacy no Allele G is not associated with response to risperidone in people with Schizophrenia as compared to allele A.GG OR0.819
174rs3842727 methadoneDosage no Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele G.G OR0.807
175rs12979860 peginterferon alfa-2bEfficacy no Genotype CC is not associated with increased response to peginterferon alfa-2b in people with Hepatitis B, Chronic as compared to genotype CT. OR0.806
176rs12693402 lithiumEfficacy no Allele C is not associated with response to lithium in people with Bipolar Disorder as compared to allele T.CC OR0.8
177rs4680 levodopaDosage no Genotype AA is not associated with dose of levodopa in people with Parkinson Disease as compared to genotype GG.A OR0.8
178rs699946 ranibizumabEfficacy no Allele A is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele G. OR0.8
179rs800292 ranibizumabEfficacy no Allele A is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele G. OR0.794
180rs5888 ranibizumabEfficacy no Allele A is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele G. OR0.781
181rs2650972 methotrexateEfficacy no Allele T is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C. OR0.781
182rs10770140 methadoneDosage no Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.C OR0.766
183rs2160734 acamprosateEfficacy no Allele C is not associated with response to acamprosate in people with Alcoholism as compared to allele T.CC HR0.763
184rs3761372 methylphenidateEfficacy no Allele T is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity. OR0.763
185rs3787429 risperidoneEfficacy no Allele T is not associated with response to risperidone in people with Schizophrenia as compared to allele C.TT OR0.756
186rs34897046 lithiumEfficacy no Allele C is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele G. OR0.746
187rs162040 methotrexateEfficacy no Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C. OR0.741
188rs10770141 methadoneDosage no Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele A.A OR0.73
189rs3792452 methylphenidateEfficacy not stated Genotype CT is associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype CC. OR0.714
190rs929740 methylphenidateEfficacy no Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity. OR0.714
191rs2236258 methadoneEfficacy no Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele T.C OR0.714
192rs6973474 buprenorphineEfficacy yes Allele T is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to allele C. OR0.712
193rs4291 sertralineEfficacy no Genotype TT is not associated with response to sertraline in people with Depressive Disorder.TT OR0.709
194rs3745274 efavirenzEfficacy yes Genotypes GT + TT are associated with decreased resistance to efavirenz in people with HIV Infections as compared to genotype GG.TT OR0.7
195rs13169373 buprenorphineEfficacy yes Allele T is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to allele C. OR0.696
196rs12943590 metforminEfficacy yes Genotypes AA + AG is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to genotype GG.AA OR0.68
197rs274713 gemcitabineEfficacy yes Genotype GG is associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes GT + TT. HR0.671
198rs465646 cisplatinEfficacy no Genotypes AG + GG are not associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype AA.G OR0.667
199rs1799836 levodopaDosage no Genotype TT is not associated with dose of levodopa in women with Parkinson Disease as compared to genotype CC.T OR0.667
200rs9032 methylphenidateEfficacy no Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity. OR0.658
201rs28362731 cisplatinEfficacy no Genotype AG is not associated with response to cisplatin in people with Mesothelioma as compared to genotype GG. HR0.641
202rs1061170 photodynamic therapyEfficacy no Genotype TT is not associated with response to photodynamic therapy in people with Macular Degeneration as compared to genotype CC.C OR0.637
203rs4627790 methylphenidateEfficacy no Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity. OR0.629
204rs35661809 salbutamolEfficacy yes Allele G is associated with increased response to salbutamol in children with as compared to allele A. OR0.629
205rs3803300 risperidoneEfficacy no Allele C is not associated with response to risperidone in people with Schizophrenia as compared to allele T.CC OR0.628
206rs610604 ustekinumabEfficacy no Genotype GG is not associated with response to ustekinumab in people with Psoriasis as compared to genotype TT.G OR0.625
207rs12248560 clopidogrelEfficacy no Genotypes CT + TT is not associated with response to clopidogrel in people with Coronary Artery Disease as compared to genotype CC.T OR0.62
208rs11559290 methylphenidateEfficacy no Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity. OR0.617
209rs3212980 cisplatinEfficacy no Genotype GT is associated with increased response to cisplatin in women with Ovarian Neoplasms as compared to genotype TT.G OR0.61
210rs73598374 methotrexateToxicity no Allele C is not associated with discontinuation of methotrexate in people with Arthritis, Rheumatoid as compared to allele T.T HR0.61
211rs4562 methylphenidateEfficacy no Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity. OR0.606
212rs2799018 methylphenidateEfficacy no Allele T is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity. OR0.599
213rs2242446 venlafaxineEfficacy yes Genotype CC is associated with increased response to venlafaxine in people with Depressive Disorder, Major as compared to genotypes CT + TT.C OR0.599
214rs17834628 salbutamolEfficacy yes Allele A is associated with increased response to salbutamol in children with as compared to allele G. OR0.599
215rs678849 buprenorphineEfficacy yes Genotype CC is associated with decreased response to buprenorphine in people with Opioid-Related Disorders as compared to genotypes CT + TT. RR0.592
216rs45445694 fluorouracilEfficacy yes Genotype (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 is associated with decreased response to fluorouracil in people with Colorectal Neoplasms. HR0.592
217rs11280056 fluorouracilEfficacy yes Genotype TTAAAGTTA/del is associated with decreased response to fluorouracil in people with Colorectal Neoplasms as compared to genotype del/del. HR0.592
218rs4358872 methadoneDosage no Genotype GG is associated with decreased dose of methadone in people with Heroin Dependence as compared to genotypes GT + TT. OR0.59
219rs1045642 sunitinibEfficacy yes Genotype AA is associated with decreased response to sunitinib in people with Carcinoma, Renal Cell as compared to genotypes AG + GG.A HR0.588
220rs1801274 cetuximabEfficacy yes Genotype GG is associated with increased response to cetuximab in people with Head and Neck Neoplasms as compared to genotypes AA + AG.A HR0.585
221rs581111 buprenorphineEfficacy yes Genotypes AA + AG is associated with decreased response to buprenorphine in women with Opioid-Related Disorders as compared to genotype GG. RR0.581
222rs4805162 methylphenidateEfficacy no Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity. OR0.581
223rs5569 methylphenidateEfficacy yes Genotype GG is associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotypes AA + AG. OR0.578
224rs7118900 methadoneDosage no Genotypes AA + AG are associated with decreased dose of methadone in people with Heroin Dependence as compared to genotype GG. OR0.57
225rs2336219 cisplatinEfficacy no Genotypes AG + GG are associated with increased response to cisplatin in women with Ovarian Neoplasms as compared to genotype AA.A OR0.56
226rs529520 buprenorphineEfficacy yes Genotype AA is associated with decreased response to buprenorphine in women with Opioid-Related Disorders as compared to genotype CC. RR0.556
227rs13120400 methotrexateEfficacy yes Genotype CC is associated with increased response to methotrexate in people with Psoriasis as compared to genotypes CT + TT. OR0.556
228rs3810818 methylphenidateEfficacy no Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity. OR0.552
229rs675026 methadoneEfficacy no Allele G is not associated with response to methadone in people with Heroin Dependence as compared to allele A.A OR0.552
230rs7719775 platinumEfficacy no Genotype AA is associated with decreased response to platinum in people with Carcinoma, Non-Small-Cell Lung as compared to genotype GG. OR0.549
231rs756770 buprenorphineEfficacy yes Allele A is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to allele C. OR0.538
232rs1044457 gemcitabineEfficacy yes Genotype CC is associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes CT + TT. HR0.526
233rs429358 ranibizumabEfficacy no Allele C is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele T. OR0.526
234rs2153628 indomethacinEfficacy yes Allele G is associated with increased response to indomethacin as compared to allele A. OR0.521
235rs2279343 bupropionEfficacy yes Genotype AA is associated with increased response to bupropion in people with Tobacco Use Disorder as compared to genotypes AG + GG.AG OR0.521
236rs6269 quetiapineEfficacy yes Allele A is associated with decreased response to quetiapine in people with Schizophrenia as compared to allele G. OR0.516
237rs35687416 gemcitabineEfficacy yes Genotype GG is associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes GT + TT. HR0.515
238rs3087386 cisplatinEfficacy no Genotypes AA + AG are not associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype GG.A OR0.51
239rs1128503 sunitinibEfficacy no Genotype AA is not associated with response to sunitinib in people with Carcinoma, Renal Cell as compared to genotypes AG + GG.GA OR0.5
240rs1048786 methylphenidateEfficacy no Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity. OR0.493
241rs6878291 platinumEfficacy yes Genotype GG is associated with decreased response to platinum in people with Carcinoma, Non-Small-Cell Lung as compared to genotype AA.GG OR0.49
242rs776746 sunitinibDosage yes Allele T is associated with decreased dose of sunitinib in people with Carcinoma, Renal Cell as compared to allele C. OR0.49
243rs7624046 ritodrineEfficacy yes Genotype TT is associated with decreased response to ritodrine as compared to genotypes CC + CT. HR0.485
244rs2053044 ramiprilEfficacy yes Genotypes AA + AG is associated with increased response to ramipril in people with Hypertension as compared to genotype GG. HR0.478
245rs10835210 methadoneDosage no Genotype CC is associated with increased dose of methadone in people with Heroin Dependence as compared to genotypes AA + AC. OR0.467
246rs12409352 methylphenidateEfficacy no Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity. OR0.465
247rs3210967 methylphenidateEfficacy no Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity. OR0.465
248rs10465180 clozapineEfficacy yes Genotype CC is associated with decreased response to clozapine in people with Schizophrenia as compared to genotypes CT + TT. OR0.465
249rs4149117 imatinibEfficacy yes Genotypes GG + GT is associated with decreased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype TT. OR0.461
250rs7311358 imatinibEfficacy yes Genotypes AA + AG is associated with decreased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype GG. OR0.461
251rs1801394 methotrexateEfficacy yes Genotypes AG + GG is associated with increased response to methotrexate in children with Arthritis, Juvenile Rheumatoid as compared to genotype AA. OR0.457
252rs1051266 methotrexateEfficacy yes Genotypes CT + TT is associated with increased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype CC.T OR0.455
253rs523349 abirateroneEfficacy yes Genotype CC is associated with increased response to abiraterone in men with Prostatic Neoplasms as compared to genotypes CG + GG.C HR0.43
254rs2838958 methotrexateEfficacy yes Genotype AA is associated with decreased response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes AG + GG. HR0.427
255rs6545816 hydroxyureaEfficacy no Allele A is not associated with increased response to hydroxyurea in people with beta-Thalassemia.AA OR0.417
256rs1799983 salvianolic acid bEfficacy yes Genotype GG is associated with increased response to salvianolic acid b in people with Coronary Disease as compared to genotypes GT + TT.T OR0.408
257rs4938013 clozapineEfficacy no Allele C is not associated with response to clozapine in people with Schizophrenia as compared to allele A.A OR0.402
258rs12610827 olanzapineEfficacy yes Allele T is associated with increased clinical benefit to olanzapine in people with Schizophrenia as compared to allele G. OR0.402
259rs1800470 rituximabEfficacy yes Genotype AG is associated with increased response to rituximab in people with Arthritis, Rheumatoid as compared to genotype AA. OR0.385
260rs462779 cisplatinEfficacy yes Genotypes AG + GG are associated with decreased response to cisplatin in people with Osteosarcoma as compared to genotype AA.G OR0.385
261rs2233945 etanerceptEfficacy yes Allele C is associated with decreased response to etanercept in people with Arthritis, Rheumatoid as compared to allele A.A OR0.37
262rs7703002 platinumEfficacy no Genotype AA is associated with decreased response to platinum in people with Carcinoma, Non-Small-Cell Lung as compared to genotype CC. OR0.366
263rs2853539 methotrexateEfficacy yes Genotype AA is associated with decreased response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G. OR0.362
264rs3077 peginterferon alfa-2bEfficacy yes Genotype GG is associated with increased response to peginterferon alfa-2b in people with Hepatitis B, Chronic as compared to genotypes AA + AG. OR0.36
265rs1731017 valproic acidEfficacy no Genotypes AA + AG is associated with increased resistance to valproic acid in people with Epilepsy as compared to genotype GG.AA OR0.358
266rs11615 cisplatinEfficacy yes Allele A is associated with decreased response to cisplatin in women with Ovarian Neoplasms as compared to allele G.A OR0.348
267rs3212227 methotrexateOther no Allele G is not associated with response to methotrexate in people with Psoriasis as compared to allele T. OR0.347
268rs6785930 clopidogrelEfficacy yes Genotypes AA + AG is associated with increased resistance to clopidogrel as compared to genotype GG. OR0.346
269rs324026 olanzapineEfficacy yes Allele C is associated with increased clinical benefit to olanzapine in people with Schizophrenia as compared to allele T.CC OR0.345
270rs28386840 methylphenidateEfficacy yes Genotypes AT + TT are associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype AA. OR0.341
271rs1232027 methotrexateEfficacy yes Allele A is associated with increased response to methotrexate in people with Arthritis, Psoriatic as compared to allele G. OR0.334
272rs12708954 atomoxetineEfficacy yes Allele A is associated with increased response to atomoxetine in children with Attention Deficit Disorder with Hyperactivity as compared to allele C. OR0.323
273rs1643650 methotrexateEfficacy no Genotypes CC + CT is associated with increased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype TT.CC OR0.31
274rs833061 ranibizumabEfficacy no Allele C is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele T. OR0.291
275rs7079 benazeprilEfficacy yes Genotype GG is associated with response to benazepril in women with Hypertension as compared to genotype TT. OR0.286
276rs4646 tamoxifenEfficacy yes Genotype AA is associated with decreased response to tamoxifen in women with Breast Neoplasms and Menopause as compared to genotypes AC + CC.A HR0.277
277rs6809699 clopidogrelEfficacy yes Genotypes AA + AC is associated with increased resistance to clopidogrel as compared to genotype CC. OR0.272
278rs11269124 clonidineEfficacy yes Genotypes GGGGAGCTTTCCCAGAGACCC/del + del/del are associated with increased response to clonidine in people with Liver Cirrhosis as compared to genotype GGGGAGCTTTCCCAGAGACCC/GGGGAGCTTTCCCAGAGACCC. OR0.258
279rs12539 cannabidiolEfficacy yes Genotypes CT + TT are associated with increased response to cannabidiol in people with Epilepsy as compared to genotype CC. OR0.253
280rs10248420 clozapineEfficacy yes Allele A is associated with decreased response to clozapine in people with Schizophrenia as compared to allele G.A OR0.244
281rs25487 fluorouracilEfficacy yes Genotype CC is associated with increased response to fluorouracil in people with Rectal Neoplasms as compared to genotype CT. OR0.239
282rs10124893 duloxetineEfficacy yes Allele G is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele A. OR0.239
283rs3784864 methotrexateEfficacy yes Genotypes AG + GG are associated with decreased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype AA. OR0.236
284rs2070762 methylphenidateEfficacy yes Genotype GG is associated with decreased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotypes AA + AG. OR0.231
285rs12083537 tocilizumabEfficacy yes Genotype AA is associated with increased response to tocilizumab in people with Arthritis, Rheumatoid as compared to genotypes AG + GG.G OR0.23
286rs12502866 duloxetineEfficacy yes Allele G is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele A. OR0.229
287rs3811381 eculizumabEfficacy no Genotypes CG + GG is not associated with response to eculizumab in people with paroxysmal nocturnal hemoglobinuria as compared to genotype CC.C OR0.227
288rs10123866 duloxetineEfficacy yes Allele G is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele A. OR0.227
289rs7472 duloxetineEfficacy yes Allele G is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele A. OR0.227
290rs7035619 duloxetineEfficacy yes Allele A is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele T. OR0.227
291rs6479008 duloxetineEfficacy yes Allele C is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele A. OR0.227
292rs10989064 duloxetineEfficacy yes Allele T is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele C. OR0.227
293rs9873889 duloxetineEfficacy yes Allele C is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele T. OR0.216
294rs9879065 duloxetineEfficacy yes Allele C is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele T. OR0.216
295rs3213422 leflunomideEfficacy yes Genotype CC is associated with increased clinical benefit to leflunomide in people with Arthritis, Rheumatoid as compared to genotypes AA + AC.A OR0.212
296rs1799732 bupropionEfficacy yes Genotype GG is associated with increased response to bupropion in people with Tobacco Use Disorder as compared to genotypes G/del + del/del. OR0.2
297rs2853542 methotrexateEfficacy yes Genotype GG is associated with decreased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotypes CC + CG.GG OR0.185
298rs1427407 hydroxyureaEfficacy yes Allele T is associated with increased response to hydroxyurea in people with beta-Thalassemia as compared to allele G.TT OR0.164
299rs150929 imatinibEfficacy yes Genotypes GG + GT is associated with decreased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype TT. OR0.157
300rs2276302 clozapineEfficacy yes Allele G is associated with increased response to clozapine in people with Schizophrenia as compared to allele A.G OR0.152
301rs9332238 warfarinDosage yes Allele G is associated with increased dose of warfarin as compared to allele A. OR0.147
302rs2274567 eculizumabEfficacy yes Genotypes AG + GG is associated with decreased response to eculizumab in people with paroxysmal nocturnal hemoglobinuria as compared to genotype AA.A OR0.138
303rs9310657 duloxetineEfficacy yes Allele T is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele G. OR0.115
304rs9310658 duloxetineEfficacy yes Allele C is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele T. OR0.115
305rs7616119 duloxetineEfficacy yes Allele G is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele C. OR0.115
306rs7653345 duloxetineEfficacy yes Allele A is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele G. OR0.115
307rs9819548 duloxetineEfficacy yes Allele G is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele A. OR0.115
308rs13093500 duloxetineEfficacy yes Allele T is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele A. OR0.115
309rs9824595 duloxetineEfficacy yes Allele G is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele T. OR0.115
310rs4334661 duloxetineEfficacy yes Allele T is associated with increased response to duloxetine in people with Depressive Disorder, Major as compared to allele C. OR0.115
311rs766432 hydroxyureaEfficacy yes Allele C is associated with increased response to hydroxyurea in people with beta-Thalassemia as compared to allele A.CC OR0.11
312rs10210302 adalimumabEfficacy yes Genotypes CT + TT is associated with increased response to adalimumab in people with Crohn Disease as compared to genotype CC.C OR0.106
313rs144854329 cetuximabEfficacy yes Genotype del/del is associated with increased response to cetuximab in people with Colorectal Neoplasms as compared to genotypes GGTCCCACTCTTCCCACA/GGTCCCACTCTTCCCACA + GGTCCCACTCTTCCCACA/del.GGTCCCACTCTTCCCACAGGTCCCACTCTTCCCACA OR0.1
314rs1799724 etanerceptEfficacy yes Genotypes CT + TT is associated with increased response to etanercept in people with Arthritis, Rheumatoid as compared to genotype CC. OR0.083
315rs5882 rosuvastatinEfficacy yes Allele G is associated with increased response to rosuvastatin as compared to allele A.G OR0.075
316rs2284411 methylphenidateEfficacy yes Genotype CC is associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotypes CT + TT.C OR0.07
317rs9934438 warfarinDosage yes Genotype AG is associated with increased dose of warfarin in people with Atrial Fibrillation, Cardiomyopathies, heart valve replacement, Peripheral Vascular Diseases, Pulmonary Embolism and Venous Thrombosis as compared to genotype GG.A OR0.06
318rs6311 ustekinumabEfficacy yes Genotypes CT + TT is associated with decreased response to ustekinumab in people with Psoriasis as compared to genotype CC. OR0.05
319rs1570360 sildenafilEfficacy yes Genotype AA is associated with decreased response to sildenafil in men with Erectile Dysfunction as compared to genotypes AG + GG.AA OR0.05
320rs1967554 methadoneEfficacy yes Allele C is associated with decreased response to methadone in people with Opioid-Related Disorders as compared to allele A. OR0.049
321rs988748 methadoneEfficacy yes Allele C is associated with decreased response to methadone in people with Opioid-Related Disorders as compared to allele G. OR0.049
322rs2030324 methadoneEfficacy yes Allele G is associated with decreased response to methadone in people with Opioid-Related Disorders as compared to allele A. OR0.049
323rs749671 warfarinDosage yes Allele G is associated with increased dose of warfarin as compared to allele A. OR0.049
324rs4671393 hydroxyureaEfficacy yes Allele A is associated with increased response to hydroxyurea in people with beta-Thalassemia as compared to allele G.AA OR0.047
325rs396991 rituximabEfficacy yes Genotype AA is associated with decreased response to rituximab in people with Neuromyelitis Optica as compared to genotype CC.A OR0.04
326rs191190 ustekinumabEfficacy yes Genotypes CC + CT is associated with decreased response to ustekinumab in people with Psoriasis as compared to genotype TT. OR0.035
327rs1062613 clozapineEfficacy yes Allele T is associated with increased response to clozapine in people with Schizophrenia as compared to allele C.T OR0.035

Major risks

It is not enough to have "centenarian" genes to become one: You have to cut down Your health risks before. This section contains information about the risk of developing chronic age-related diseases: cardiovascular, cancer, mental health, chronic inflammation, bone and muscle diseases, and lung diseases.

Hereditary Cancers are caused by a genetic defect that determines a higher-than-normal risk of developing cancer. Hereditary cancers can have an impact on longevity, as individuals with certain genetic mutations that increase the risk of cancer may have a shorter life expectancy. The report includes about 300 genes, related to cancer predisposition, progression and tumor cell motility.

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# ChromPositionGeneRSIDcDNA ChangeZygosity Allele FrequencyPhenotype NameSignificance
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1chr9 95174077FANCC rs7850958 c.346-1930T>Chom0.461417977241 not providedUncertain significance
+
2chr8 11758901GATA4 rs1062219 c.*426C>Thom0.320965164589 not providedUncertain significance
+
3chr6 152121769ESR1 rs71660056 c.851-3487delhet0.453276658411 Emery-Dreifuss muscular dystrophy|Cerebellar ataxiaUncertain significance
+
4chr6 151842200ESR1 rs2234693 c.453-397T>Chet0.472820185244 Myocardial infarction, susceptibility torisk factor
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5chr4 54296368PDGFRA rs34529347 c.*1109_*1111delhet0.233246463142 Idiopathic hypereosinophilic syndrome|Gastrointestinal stromal tumorUncertain significance
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6chr3 12583766RAF1 rs371820097 c.*745_*748duphet0.0100082871167 Noonan syndrome|Noonan syndrome with multiple lentiginesUncertain significance
+
7chr3 10152482VHL rs71052299 c.*2540_*2545delhom0.283872598584 Von Hippel-Lindau syndromeUncertain significance
+
8chr22 41179881EP300 rs59721178 c.*966_*967delhet0.0836860330896 Rubinstein-Taybi syndrome due to CREBBP mutationsUncertain significance
+
9chr22 29628628NF2 rs5844863 c.115-8101delhetNone Neurofibromatosis, type 2Uncertain significance
+
10chr18 51084013SMAD4 rs1555688055 c.*5546_*5547insGCAChet0.0558176100629 Juvenile Polyposis|Myhre syndrome|Telangiectasia, hereditary hemorrhagic, type 1Uncertain significance
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11chr17 42314852STAT3 rs754306251 c.*893duphet0.0704885343968 Hyper-IgE syndromeUncertain significance
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12chr17 7668837TP53 rs200757381 c.*772delhom0.631307090039 Li-Fraumeni syndromeUncertain significance
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13chr15 98963214IGF1R rs35151840 c.*5789delhom0.636829615567 Growth delay due to insulin-like growth factor I resistanceUncertain significance
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14chr15 38352242SPRED1 rs147547509 c.*590_*595duphet0.0101997146933 Legius syndromeUncertain significance
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15chr14 95090172DICER1 rs35649919 c.*326delhom0.676011739265 Pleuropulmonary blastomaUncertain significance
+
16chr11 22623348FANCF rs45554234 c.*1338duphom0.959894071852 Fanconi anemiaUncertain significance
+
17chr10 87966903PTEN rs5786797 c.*1458_*1459delhet0.231438812084 PTEN hamartoma tumor syndromeUncertain significance
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18chr10 8054744GATA3 rs60098638 c.-503_-502duphet0.32433898974 Hypoparathyroidism, deafness, renal disease syndromeUncertain significance
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19chr1 158611132SPTA1 rs55832242 c.*131_*132delhet0.319211377831 Elliptocytosis|Pyropoikilocytosis, hereditary|Spherocytosis, RecessiveUncertain significance
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20chr1 26766242ARID1A rs781401097 c.2754G>Chet3.58362997826e-05 not providedUncertain significance

Identification of Crucial Genotypes

Beneficial Genotypes:

Currently, the provided report does not list any genotypes that are explicitly beneficial. All listed genotypes are of uncertain significance or associated with potential health risks.

Detrimental Genotypes:

  • SPTA1 (rs55832242): Associated with hereditary red blood cell disorders such as elliptocytosis, pyropoikilocytosis, and spherocytosis.
  • GATA3 (rs60098638): Linked to hypoparathyroidism, deafness, and renal disease syndrome.
  • PTEN (rs5786797): Associated with PTEN hamartoma tumor syndrome.
  • FANCF (rs45554234): Linked to Fanconi anemia.
  • DICER1 (rs35649919): Associated with pleuropulmonary blastoma.
  • SPRED1 (rs147547509): Linked to Legius syndrome.
  • IGF1R (rs35151840): Associated with growth delay due to insulin-like growth factor I resistance.
  • TP53 (rs200757381): Linked to Li-Fraumeni syndrome.
  • STAT3 (rs754306251): Associated with Hyper-IgE syndrome.
  • SMAD4 (rs1555688055): Linked to juvenile polyposis, Myhre syndrome, and hereditary hemorrhagic telangiectasia.
  • NF2 (rs5844863): Associated with neurofibromatosis type 2.
  • EP300 (rs59721178): Linked to Rubinstein-Taybi syndrome.
  • VHL (rs71052299): Associated with Von Hippel-Lindau syndrome.
  • RAF1 (rs371820097): Linked to Noonan syndrome and Noonan syndrome with multiple lentigines.
  • PDGFRA (rs34529347): Associated with idiopathic hypereosinophilic syndrome and gastrointestinal stromal tumor.
  • ESR1 (rs2234693): Linked to myocardial infarction susceptibility.
  • ESR1 (rs71660056): Associated with Emery-Dreifuss muscular dystrophy and cerebellar ataxia.

Interactions Between Genotypes

There are no specific interactions between the listed genotypes provided in the report. However, it is important to consider that multiple mutations in tumor suppressor genes (e.g., PTEN, TP53) could potentially amplify cancer risks.

Risk Assessment

Longevity Related Risks:

  • PTEN (rs5786797): Increased risk of cancer due to PTEN hamartoma tumor syndrome.
  • TP53 (rs200757381): Increased risk of various cancers due to Li-Fraumeni syndrome.
  • VHL (rs71052299): Increased risk of cancers such as renal cell carcinoma and cerebellar hemangioblastoma.

General Risks:

  • SPTA1 (rs55832242): Risk of hereditary red blood cell disorders.
  • GATA3 (rs60098638): Risk of hypoparathyroidism, deafness, and renal disease syndrome.
  • FANCF (rs45554234): Risk of Fanconi anemia.
  • DICER1 (rs35649919): Risk of pleuropulmonary blastoma.
  • SPRED1 (rs147547509): Risk of Legius syndrome.
  • IGF1R (rs35151840): Risk of growth delay due to insulin-like growth factor I resistance.
  • STAT3 (rs754306251): Risk of Hyper-IgE syndrome.
  • SMAD4 (rs1555688055): Risk of juvenile polyposis, Myhre syndrome, and hereditary hemorrhagic telangiectasia.
  • NF2 (rs5844863): Risk of neurofibromatosis type 2.
  • EP300 (rs59721178): Risk of Rubinstein-Taybi syndrome.
  • RAF1 (rs371820097): Risk of Noonan syndrome and Noonan syndrome with multiple lentigines.
  • PDGFRA (rs34529347): Risk of idiopathic hypereosinophilic syndrome and gastrointestinal stromal tumor.
  • ESR1 (rs2234693): Risk of myocardial infarction.
  • ESR1 (rs71660056): Risk of Emery-Dreifuss muscular dystrophy and cerebellar ataxia.

Risk Reduction Strategies

  • Regular Screening: For individuals with mutations in tumor suppressor genes (e.g., PTEN, TP53), regular cancer screenings are recommended.
  • Healthy Lifestyle: Maintaining a healthy diet, regular exercise, and avoiding smoking can help reduce general health risks.
  • Genetic Counseling: Consulting with a genetic counselor can provide personalized risk assessments and management strategies.
  • Medical Interventions: For specific conditions like Fanconi anemia or neurofibromatosis, medical interventions and treatments should be discussed with healthcare providers.

Additional Insights

All listed genotypes are of uncertain significance, meaning that their exact impact on health is not fully understood. Continuous monitoring of scientific research and regular consultations with healthcare professionals are recommended to stay updated on any new findings related to these genotypes.

Coronary artery disease (CAD) is a condition in which the blood vessels that supply the heart muscle with oxygen and nutrients become narrowed or blocked, leading to reduced blood flow to the heart. Age is a major risk factor for CAD, as the risk of developing CAD increases with age. Genetic factors plays an important role in the development of coronary artery disease (CAD).

However, it's important to note that genetics is just one of many factors that contribute to the development of CAD, and having a genetic predisposition to the disease does not necessarily mean that an individual will develop it.

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# RSIDGeneRisk AlleleGenotypePubmed ID PopulationP-ValueWeight
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1 rs8055236 CDH13 G G/GPMID 17554300; PMID 19956433; PMID 20017983;European [PMID 17554300]: 6 x 10-6-1.7
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2 rs501120 LINC02881 A A/APMID 17634449; PMID 23202125; PMID 22042884; PMID 21804106; PMID 20847302; PMID 20098575; PMID 19750184; PMID 19955471; PMID 19164808;European [PMID 17634449]: 9 x 10-8-1.4
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3 rs4977574 CDKN2B-AS1 G G/APMID 17478681; PMID 21378990; PMID 21378988; PMID 24916648; PMID: 30278588European; Asian [PMID 29263402]: 1 x 10-7; [PMID 21239051]: 1 x 10-14;-1.3
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4 rs17465637 MIA3 C C/CPMID: 35768776; PMID 19956433; PMID 21804106; PMID 21984477; PMID 21264445;European; Iranian; [PMID 17634449]: 1 x 10-6; [PMID 21378990]: 1 x 10-8;-1.2
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5 rs17228212 SMAD3 C C/TPMID 17634449; PMID 19750184; PMID 19956433; PMID 20017983; PMID 21804106;European [PMID 17634449]: 2 x 10-7-1.1
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6 rs1122608 LDLR G G/GPMID: 27664493; PMID 23380588; PMID 23202125; PMID 20810930; PMID 19956433; PMID: 33321069; PMID 21378990;European; Asian [PMID: 33321069]: 5 x 10-7; [PMID 21378990]: 1 x 10-9-1.0
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7 rs383830 APC A A/APMID 26436499; PMID 17554300; PMID 21804106; PMID 19956433; PMID 21804106;European -0.9
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8 rs1746048 CXCL12 (LINC02881) C C/CPMID: 28614256; PMID 19956433; PMID 23531450; PMID 21378990; PMID 33632238; PMID 21378990;European; Asian [PMID 33632238]: 1 x 10-6; [PMID 21378990]:3 x 10-10;-0.9
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9 rs7250581 G G/GPMID 19955471; PMID 19956433; PMID 17554300;European -0.8
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10 rs12413409 CNNM2 G G/GPMID 21378988; PMID 24262325; PMID: 21378990; PMID: 31228190; PMID 21378990;European [PMID 21378990]: 1 x 10-9-0.8
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11 rs6725887 WDR12 C C/CPMID 19956433; PMID 26629484; PMID 28710368; PMID 21378990; PMID 24262325; PMID 17634449; PMID 21378990;European [PMID 17634449]: 6 x 10-8; [PMID 21378990]: 1 x 10-9;-0.8
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12 rs688034 SEZ6L T T/TPMID 17554300; PMID 19956433; PMID 20017983;European [PMID 17554300]: 4 x 10-6-0.7
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13 rs11206510 PCSK9 T C/TPMID 20864672; PMID 21378990;Multiethnic; Asian [PMID 26343387]: 2 x 10-8; [PMID 32469254]: 1 x 10-8;-0.6
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14 rs7692387 GUCYA3 G G/GPMID: 31228190; PMID 23202125; PMID 31883534;European; Chinese [PMID: 29212778]: Discovery sample description: up to 122,733 cases, up to 424,528 controls-0.5
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15 rs55730499 LPA T T/TPMID: 26343387Multiethnic; [PMID 26343387]: 5 x 10-39-0.4
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16 rs181100621 PKN2-AS1 A A/APMID 33632238;Asian [PMID 33632238]: 1 x 10-5;-0.3
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17 rs3184504 SH2B3 T C/TPMID 24262325; PMID 21378990; PMID 26343387;Multiethnic -0.1
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18 rs964184 ZPR1 G C/CPMID 19060906; PMID 20864672; PMID 21378990; PMID 22003152; PMID 21378990; PMID 28714975;European [PMID 28714975]: 5 x 10-6; [PMID 21378990]: 1 x 10-17;0.0
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19 rs515135 APOB T C/CPMID 23202125; PMID: 30507093; PMID 29212778;European [PMID 29212778]: 6 x 10-170.0
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20 rs2943634 C C/APMID 17634449; PMID 23659870; PMID 22042884; PMID 19956433; PMID 19750184; PMID 22207032;European [PMID 17634449]: 2 x 10-70.0
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21 rs17514846 FURIN A A/APMID: 26343387; PMID 23202125; PMID: 32067586;Multiethnic [PMID: 26343387]: 3 x 10-7;0.0
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22 rs17672135 FMN2 C C/CPMID 19956433; PMID 17554300; PMID 20017983;European [PMID 17554300]: 2 x 10-60.2
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23 rs11591147 PCSK9 T/GPMID 30104761; PMID 28714975; PMID 23083789; PMID 18193044;European; [PMID 30104761]: 2 x 10-12; [PMID 28714975]: 3 x 10-100.7
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24 rs6922269 MTHFD1L A A/GPMID 17634449; PMID 17554300; PMID 19164808; PMID 22216278; PMID 17634449;European [PMID 17634449]: 3 x 10-8;0.7
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25 rs1333049 CDKN2B-AS1 C C/GPMID 17634449, PMID 18362232; PMID 20031606; PMID 19171343; PMID 18979498; PMID 24573017; PMID 23202125; PMID 22623978; PMID 17554300; PMID 33321069;European; Multiethnic; [PMID 17554300]: 1 x 10-13; [PMID 33321069]: 5 x 10-18;0.9
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26 rs3798220 LPA C C/CPMID: 21378990; PMID 18775538; PMID 20032323;European [PMID 21378990]: 3 x 10-111.5

Identification of Crucial Genotypes

Beneficial Genotypes:

rs11591147 (PCSK9): The TG genotype is protective and is associated with reduced risk of heart disease. This genotype is linked to lower LDL cholesterol levels and a reduced risk of cardiovascular events. More info

rs17465637 (MIA3): The CC genotype increases susceptibility to coronary artery disease and myocardial infarction, with a 1.3x elevated risk. More info

rs964184 (ZPR1): The CC genotype is not associated with an increased risk of hypertriglyceridemia and coronary artery disease. More info

rs515135 (APOB): The CC genotype does not contain the risk indicating typical risk for coronary heart disease. More info

rs2943634: The C/A SNP is not associated with an increased risk of coronary artery disease. More info

rs17514846 (FURIN): The CC genotype is not associated with an increased risk of coronary artery disease. More info

rs3798220 (LPA): The C allele is associated with higher levels of plasma Lp(a) and a higher risk of major cardiovascular events, including coronary artery disease. Low-dose aspirin therapy in women can reduce the negative impact of the allele. More info

rs1333049 (CDKN2B-AS1): The GC genotype is associated with a 1.5x increased risk for coronary artery disease. More info

rs17672135 (FMN2): The CC genotype is associated with a slightly reduced risk of heart disease. More info

Detrimental Genotypes:

rs11206510 (PCSK9): The TC variant carriers may have an elevated risk of coronary artery disease due to PCSK9 overexpression, which increases plasma LDL-C levels. More info

rs3184504 (SH2B3): The TC variant is associated with a slightly increased risk of coronary artery disease. More info

rs17228212 (SMAD3): The CT genotype carriers have a 1.26x increased risk for heart disease. More info

rs7250581: The GG genotype is associated with a 1.40x increased risk of coronary artery disease. More info

rs4977574 (CDKN2B-AS1): The GA carriers have a 1.3x increased susceptibility to coronary artery disease. More info

rs1122608 (LDLR): The GG genotype is associated with an increased risk for coronary artery disease. More info

rs12413409 (CNNM2): The GG genotype is associated with an increased risk of coronary disease. More info

rs7692387 (GUCYA3): The GG genotype is associated with an increased risk of heart disease. More info

rs1746048 (CXCL12): The CC carriers have a 1.1-1.3x increased risk for coronary heart disease. More info

rs6725887 (WDR12): The CC carriers have a shared genetic susceptibility to ischemic stroke and coronary artery disease. More info

rs8055236 (CDH13): The GG genotype is associated with an increased risk for heart disease, with an odds ratio of 2.23. More info

rs688034 (SEZ6L): The TT genotype is associated with a 1.6x increased risk of heart disease. More info

rs501120 (LINC02881): The AA genotype is associated with a more than 1.3x increased risk for heart disease. More info

rs181100621 (PKN2-AS1): The AA genotype is associated with an increased risk of coronary artery disease. More info

Interactions Between Genotypes

The presence of multiple detrimental genotypes, such as rs11206510 (PCSK9), rs3184504 (SH2B3), and rs1122608 (LDLR), may amplify the risk of coronary artery disease. Conversely, beneficial genotypes like rs11591147 (PCSK9) and rs3798220 (LPA) may mitigate some of these risks.

Risk Assessment

Longevity Related Risks:

The presence of detrimental genotypes such as rs11206510 (PCSK9), rs3184504 (SH2B3), and rs1122608 (LDLR) increases the risk of coronary artery disease, which can impact overall longevity.

General Risks:

Genotypes like rs17465637 (MIA3) and rs4977574 (CDKN2B-AS1) are associated with an increased risk of myocardial infarction and coronary artery disease, which are significant health risks.

Risk Reduction Strategies

Lifestyle Changes: Regular physical activity, maintaining a healthy weight, and avoiding smoking can help reduce the risk of coronary artery disease.

Dietary Adjustments: A diet low in saturated fats, trans fats, and cholesterol, and rich in fruits, vegetables, and whole grains can help manage cholesterol levels and reduce heart disease risk.

Medical Interventions: For individuals with high-risk genotypes like rs3798220 (LPA) and rs7692387 (GUCYA3), low-dose aspirin therapy may be beneficial. Regular monitoring of cholesterol levels and other cardiovascular risk factors is also recommended.

Additional Insights

The presence of beneficial genotypes such as rs11591147 (PCSK9) and rs3798220 (LPA) indicates a reduced risk of heart disease, which is a positive aspect of the individual's genetic profile. However, it is essential to consider the overall genetic risk and take proactive measures to mitigate potential health risks.

Timely detection and diagnosis of heart disorders can lead to enhanced treatment options, help to prevent sudden cardiac death, and improve prognosis. This report analyzes the most relevant genes for arrhythmias, congenital heart disease, and cardiomyopathies. Analyzed gene abnormalities may cause the following syndromes: Long and short QT, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, cardiomyopathies dilated and hypertrophic, and congenital heart defects. In addition, this panel includes vascular abnormalities, such as dolichoectasia and hereditary hemorrhagic telangiectasia.

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# GenersIDcDNA changeYour genotypeSequence ontologySIFT prediction Allele FrequencySignificanceClinVar IDOMIM
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1DMD rs1801187 c.5234G>A T/TMISDamaging 0.513357050928 Benign 94657 302045; 310200
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2FKTN rs34787999 c.608G>A A/AMISDamaging 0.249202580096 Benign/Likely benign 93522 253800; 611588; 611615; 613152
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3KCNH2 rs958442820 c.2735G>A T/CMISTolerated 5.26315789474e-05 Uncertain significance 527012 527012
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4PKD1L1 rs2686817 c.934G>T A/CMISDamaging 0.493475262581 Benign 1237805 1237805
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5NME8 rs56128139 c.1478T>C C/TMISDamaging 0.271294673582 Benign 178811 178811
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6NME8 rs62001869 c.1007G>A A/GMISDamaging 0.0157295398914 Benign 226853 610852
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7NME8 rs10250905 c.622T>C C/TMISDamaging 0.736013477567 Benign 164801 164801
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8DNAH11 rs2003417 c.7756T>C C/TMISDamaging 0.0372413741442 Benign/Likely benign 163111 163111
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9DNAAF5 rs4720951 c.1895T>C C/TMISDamaging 0.433830778724 Benign 260930 260930
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10DNAAF5 rs6946758 c.1784-1298C>G G/CINTDamaging 0.427423699075 Benign 1185315 1185315
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11SYNE1 rs4407724 c.10191C>A T/TSYNDamaging 0.658192709733 Benign 130388 130388
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12SYNE1 rs4645434 c.12180G>T A/AMISDamaging 0.580499724183 Benign 130397 610743; 612998
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13ANK2 rs36210417 c.9854T>C C/TMISDamaging 0.00863359900073 Benign/Likely benign 190528 600919
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14MYLK rs9840993 c.439C>T A/AMISDamaging 0.94149056791 Benign 198606 613780
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15RAF1 rs759107333 c.1420A>G C/TMISDamaging 7.95772854596e-06 None None None
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16TBX1 rs4819522 c.1049C>T T/TMISDamaging 0.207468145769 Benign 403525 403525
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17GATA5 rs113068438 c.8A>G C/TMISDamaging 0.00586321781789 Benign/Likely benign 180366 180366
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18TTN rs10497520 c.3601A>G C/CMISDamaging 0.688710066049 Benign 46973 600334; 604145; 608807; 611705; 603689
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19TTN rs2291311 c.9781G>A T/TMISDamaging 0.844463342901 Benign 47692 600334; 604145; 608807; 611705; 603689
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20DNAAF3 rs2365725 c.875A>G C/TMISDamaging 0.171971791255 Benign/Likely benign 257676 606763
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21RYR1 rs2071089 c.9186A>G G/ASYNDamaging 0.322394110213 Benign 93306 93306
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22NOTCH3 rs11670799 c.1487C>T A/GMISDamaging 0.011983974782 Benign/Likely benign 256120 125310
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23NOTCH3 rs4809029 c.5913+28T>G C/CINTDamaging 0.868945990553 Benign 811011 811011
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24DTNA rs9944927 c.*2593G>A A/GUT3Damaging 0.219157079015 Benign 137181 137181
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25CCDC40 rs7207166 c.2832+381G>A A/AINTDamaging 0.711252785343 Benign 1283901 1283901
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26COL1A1 rs781614679 c.3754C>T A/GMISDamaging 1.19636305631e-05 Conflicting classifications of pathogenicity 1037654 1037654
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27JUP rs41283425 c.425G>A T/CMISDamaging 0.0438894050371 Benign/Likely benign 45851 601214; 611528
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28GAS8 rs17178299 c.776G>A A/GMISDamaging 0.0526985397651 Benign 402892 402892
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29MYH11 rs113964173 c.5676G>C G/CMISDamaging 0.00501641478463 Benign/Likely benign 138358 132900
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30ALPK3 rs187316 c.4259T>C C/TMISDamaging 0.226143503793 Benign/Likely benign 384691 384691
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31DNAAF4 rs600753 c.572A>G C/TMISDamaging 0.554209658117 Benign 262315 262315
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32SYNE2 rs142660236 c.15794T>C C/TMISDamaging 0.0137591284823 Benign 130481 612999
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33SYNE2 rs8010699 c.9926A>G G/GMISDamaging 0.804419189222 Benign 130521 612999
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34SYNE2 rs8010911 c.9757G>C C/CMISDamaging 0.803822390229 Benign 130520 612999
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35SYNE2 rs4027402 c.6851C>T T/TMISDamaging 0.809269092335 Benign 130504 612999
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36SYNE2 rs4902264 c.5906T>C C/TMISDamaging 0.807647922039 Benign 130501 612999
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37SOS2 rs3736760 c.2057+38C>T A/GINTDamaging 0.762008389107 Benign 1266724 1266724
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38DNAAF2 rs2985684 c.186G>C G/GMISDamaging 0.64203724391 Benign 95893 612518
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39MMP3 rs679620 c.133A>G C/TMISDamaging 0.578682343782 Benign 403098 403098
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40MYBPC3 rs3729986 c.472G>A T/CMISDamaging 0.0662396894711 Benign 42758 615396; 115197
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41BAG3 rs2234962 c.451T>C C/TMISDamaging 0.170283253861 Benign/Likely benign 44783 612954; 613881
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42MYPN rs7079481 c.3403C>A A/AMISDamaging 0.430328419891 Benign/Likely benign 31800 615248
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43CACNB2 rs58225473 c.1965T>G G/TMISDamaging 0.137294962562 Benign 136649 611876
+
44CPT2 rs1799822 c.1939A>G G/AMISDamaging 0.162231592375 Benign 92433 600649; 608836
+
45SELENON rs2294228 c.1506C>A A/AMISDamaging 0.771142168881 Benign 95959 602771

Identification of Crucial Genotypes

Beneficial Genotypes:

None of the genotypes provided in the report are classified as beneficial.

Detrimental Genotypes:

  • SELENON (rs2294228, A/A): Associated with SEPN1-Related Disorders, including early onset muscle disorders.
  • CPT2 (rs1799822, G/A): Linked to Carnitine palmitoyl transferase II deficiency, affecting mitochondrial long-chain fatty-acid oxidation.
  • CACNB2 (rs58225473, G/T): Associated with Brugada syndrome, a cardiovascular condition.
  • MYPN (rs7079481, A/A): Related to MYPN-related myopathy and dilated cardiomyopathy.
  • BAG3 (rs2234962, C/T): Linked to Myofibrillar myopathy 6 and dilated cardiomyopathy.
  • MYBPC3 (rs3729986, T/C): Associated with hypertrophic cardiomyopathy.
  • MMP3 (rs679620, C/T): Involved in tissue remodeling and disease processes like arthritis and metastasis.
  • DNAAF2 (rs2985684, G/G): Linked to primary ciliary dyskinesia.
  • SOS2 (rs3736760, A/G): Associated with Noonan syndrome 9.
  • SYNE2 (rs4902264, C/T): Linked to Emery-Dreifuss muscular dystrophy 5.
  • DNAAF4 (rs600753, C/T): Associated with primary ciliary dyskinesia 25.
  • ALPK3 (rs187316, C/T): Linked to hypertrophic cardiomyopathy.
  • MYH11 (rs113964173, G/C): Associated with familial thoracic aortic aneurysm and aortic dissection.
  • GAS8 (rs17178299, A/G): Linked to primary ciliary dyskinesia 33.
  • JUP (rs41283425, T/C): Associated with arrhythmogenic right ventricular dysplasia 12 and Naxos disease.
  • COL1A1 (rs781614679, A/G): Linked to osteogenesis imperfecta type I.
  • CCDC40 (rs7207166, A/A): Associated with ciliary dyskinesia type 15.
  • DTNA (rs9944927, A/G): Linked to left ventricular noncompaction with congenital heart defects.
  • NOTCH3 (rs4809029, C/C): Associated with lateral meningocele syndrome and cerebral arteriopathy.
  • RYR1 (rs2071089, G/A): Linked to RYR1-Related Disorders and malignant hyperthermia susceptibility.
  • DNAAF3 (rs2365725, C/T): Associated with primary ciliary dyskinesia type 2.
  • TTN (rs2291311, T/T): Linked to dilated cardiomyopathy 1G and tibial muscular dystrophy.
  • GATA5 (rs113068438, C/T): Associated with familial thoracic aortic aneurysm and aortic dissection.
  • TBX1 (rs4819522, T/T): Linked to DiGeorge syndrome and velocardiofacial syndrome.
  • RAF1 (rs759107333, C/T): Associated with Noonan syndrome 5 and LEOPARD syndrome 2.
  • MYLK (rs9840993, A/A): Linked to familial thoracic aortic aneurysm and aortic dissection.
  • ANK2 (rs36210417, C/T): Associated with long QT syndrome 4 and cardiac arrhythmia syndrome.
  • SYNE1 (rs4645434, A/A): Linked to autosomal recessive spinocerebellar ataxia 8.
  • DNAAF5 (rs6946758, G/C): Associated with primary ciliary dyskinesia-18.
  • DNAH11 (rs2003417, C/T): Linked to primary ciliary dyskinesia.
  • NME8 (rs10250905, C/T): Associated with primary ciliary dyskinesia type 6.
  • PKD1L1 (rs2686817, A/C): Linked to PKD1L1-related condition.
  • KCNH2 (rs958442820, T/C): Associated with long QT syndrome type 2.
  • FKTN (rs34787999, A/A): Linked to Walker-Warburg congenital muscular dystrophy and dilated cardiomyopathy 1X.
  • DMD (rs1801187, T/T): Associated with Duchenne muscular dystrophy and Becker muscular dystrophy.

Interactions Between Genotypes

Several genotypes related to cardiovascular conditions (e.g., MYPN, BAG3, MYBPC3, JUP, TTN) may interact and potentially amplify the risk of developing cardiomyopathies. Additionally, multiple genotypes associated with primary ciliary dyskinesia (e.g., DNAAF2, DNAAF4, DNAAF3, DNAAF5, DNAH11, NME8) could collectively increase the severity of ciliary dysfunction.

Risk Assessment

Longevity Related Risks:

  • Cardiovascular Conditions: Genotypes in MYPN, BAG3, MYBPC3, JUP, TTN, and others increase the risk of cardiomyopathies, which can impact longevity.
  • Muscular Dystrophies: Genotypes in DMD, FKTN, and others are associated with muscular dystrophies, which can affect overall health and longevity.

General Risks:

  • Primary Ciliary Dyskinesia: Genotypes in DNAAF2, DNAAF4, DNAAF3, DNAAF5, DNAH11, NME8 increase the risk of respiratory and other ciliary-related issues.
  • SEPN1-Related Disorders: The SELENON genotype is associated with early onset muscle disorders.
  • Noonan Syndrome: The SOS2 and RAF1 genotypes are linked to Noonan syndrome, which can have various health impacts.

Risk Reduction Strategies

  • Cardiovascular Health: Regular cardiovascular check-ups, a heart-healthy diet, and regular exercise can help mitigate risks associated with cardiomyopathies.
  • Respiratory Health: For those with genotypes linked to primary ciliary dyskinesia, regular respiratory check-ups and avoiding respiratory irritants can be beneficial.
  • Muscle Health: Physical therapy and regular monitoring can help manage conditions related to muscular dystrophies.
  • Genetic Counseling: Consulting with a genetic counselor can provide personalized strategies and further insights based on the individual's genetic profile.

Additional Insights

It is important to note that while these genotypes indicate a predisposition to certain conditions, they do not guarantee the development of these conditions. Environmental factors, lifestyle choices, and other genetic factors also play a significant role in overall health. Regular medical check-ups and a healthy lifestyle can help manage and mitigate potential risks.

Lipid metabolism plays an important role in the development of heart disease, and this risk increases with age. Cholesterol is a type of lipid that is carried in the blood by lipoproteins, including low-density lipoprotein (LDL) and high-density lipoprotein (HDL). LDL is often referred to as "bad" cholesterol, as high levels of LDL are associated with an increased risk of CAD. HDL, on the other hand, is often referred to as "good" cholesterol, as it helps to remove cholesterol from the bloodstream and may have a protective effect against CAD. As we age, our lipid metabolism tends to change. For example, LDL cholesterol levels tend to increase, while HDL cholesterol levels tend to decrease. This can increase the risk of CAD and other heart diseases.

Genetics plays an important role in lipid metabolism and the development of heart disease. Genes control the production, transport, and metabolism of cholesterol and other lipids.

+
# RSIDGeneRisk AlleleGenotypePubmed ID PopulationP-ValueWeight
+
1 rs429358 APOE C CT[PMID 20429872]; [PMID 34887591];European; Asian; African; 6,00E-256-1.5
+
2 rs12740374 CELSR2 G TT [PMID: 25350695]; [PMID: 28577571];European; African; 2,00E-26-0.8
+
3 rs676210 APOB G AG[PMID: 26629186]; [PMID: 34156559]; [PMID: 23247145]European, Chinese; 6,00E-197-0.5
+
4 rs708272 CETP G GG[PMID 18560005]; [PMID 20031564]; [PMID: 27608031]; [PMID: 31739638]; [PMID: 34503513];European; Han Chinese; Asian; Western Siberia; 3,00E-11-0.5
+
5 rs6756629 ABCG8, ABCG5 G GG[PMID: 20832063]; [PMID:19060911];European; 3,00E-06-0.5
+
6 rs328 LPL G GC[PMID: 18193044]; [PMID: 30944368]; [PMID: 19148283];European; African 2,00E-28-0.4
+
7 rs5128 APOC3 G CC[PMID 19424489]; [PMID 17357073]; [PMID 19057464]; [PMID: 34503513];European; 5,00E-140.0
+
8 rs2650000 HNF1A-AS1 A CC[PMID: 28035729]; [PMID 19060906];European; Chinese; 2,00E-080.0
+
9 rs6544713 ABCG8 T CC[PMID: 30926973];European; African; Asian; Latin American; 3,00E-240.0
+
10 rs268 LPL A AA[PMID 22399527]; [PMID: 20429872]; [PMID 16741292]; [PMID 16651467];European; 2,00E-120.0
+
11 rs2967605 RAB11B C CC[PMID: 29507422];European; 8,00E-090.0
+
12 rs471364 TTC39B C TT[PMID 21738485]; [PMID 19951432]; [PMID: 19060906];European; 3,00E-100.3
+
13 rs1800961 HNF4A C CC[PMID: 24097068]; [PMID: 18660489]; European; 2,00E-340.4
+
14 rs7679 PCIF1 T TT[PMID: 19060906]; [PMID: 19965587];European; 7,00E-110.5
+
15 rs7412 APOE C TC[PMID 20406466]; [PMID 20429872]; [PMID 22174202]; [PMID: 34887591]; [PMID: 28270201];European; Asian; African; 6,00E-141.5

Identification of Crucial Genotypes

Beneficial Genotypes:

1. rs5128 (APOC3): The CC variant is favorable and associated with better lipid metabolism.

2. rs2650000 (HNF1A-AS1): The CC genotype is favorable and may play a role in lipid metabolism and energy homeostasis.

3. rs7412 (APOE): The TC genotype indicates the presence of an Apoε2 allele, which is protective against lipid elevation and neurodegeneration.

4. rs268 (LPL): The AA genotype is favorable and not associated with impaired lipid metabolism.

5. rs7679 (PCIF1): The TT genotype is favorable regarding lipid metabolism, associated with increased HDL and decreased triglyceride levels.

6. rs1800961 (HNF4A): The CC genotype is favorable and involved in the regulation of lipid metabolism.

7. rs2967605 (RAB11B): The CC variant is favorable and involved in lipid metabolism regulation.

8. rs471364 (TTC39B): The TT genotype is favorable regarding HDL levels.

Detrimental Genotypes:

1. rs12740374 (CELSR2): The TT genotype is associated with an increased risk of LDL elevation but a better response to statins.

2. rs429358 (APOE): The CT genotype is part of the APOE-ε4 allele, associated with an increased risk of Alzheimer's disease and impaired lipid metabolism.

3. rs676210 (APOB): The AG genotype is associated with an elevated risk of hyperlipidemia.

4. rs328 (LPL): The GC genotype slightly increases the risk of high triglycerides and coronary artery disease.

5. rs708272 (CETP): The GG genotype is associated with an increased risk of lipid profile disturbance but responds well to statin therapy.

6. rs6756629 (ABCG8, ABCG5): The GG genotype is associated with an increased risk of elevated LDL and triglycerides.

Interactions Between Genotypes

The presence of the APOE-ε4 allele (rs429358) combined with the unfavorable rs676210 (APOB) genotype may amplify the risk of lipid metabolism disorders and cardiovascular diseases. However, the favorable response to statin therapy in individuals with the rs12740374 (CELSR2) and rs708272 (CETP) genotypes may mitigate some of these risks.

Risk Assessment

Longevity Related Risks:

1. rs429358 (APOE): Increased risk of Alzheimer's disease and cognitive decline.

2. rs328 (LPL): Increased risk of coronary artery disease.

General Risks:

1. rs12740374 (CELSR2): Increased risk of LDL elevation.

2. rs676210 (APOB): Increased risk of hyperlipidemia.

3. rs6756629 (ABCG8, ABCG5): Increased risk of elevated LDL and triglycerides.

Risk Reduction Strategies

1. Lifestyle Changes: Regular exercise, maintaining a healthy weight, and reducing stress can help mitigate the risks associated with the APOE-ε4 allele and other detrimental genotypes.

2. Dietary Adjustments: A diet low in saturated fats and high in phytonutrient-rich foods can help manage lipid levels. For carriers of the APOE-ε4 allele, focusing on the quality and quantity of dietary fat is crucial.

3. Medical Interventions: Statin therapy can be particularly effective for individuals with the rs12740374 (CELSR2) and rs708272 (CETP) genotypes. Regular monitoring of lipid levels and cardiovascular health is recommended.

Additional Insights

While the presence of certain genotypes can increase the risk of specific health conditions, it is important to remember that genetics is only one factor. Environmental factors, lifestyle choices, and other genetic variants also play significant roles in determining overall health. Regular check-ups and personalized medical advice are essential for managing health risks effectively.

Thrombophilia is a condition in which an individual has an increased tendency to develop blood clots. This can be caused by genetic or acquired factors, and the risk of developing thrombophilia increases with age. Thrombophilia risk has a strong genetic component, as certain genetic mutations can increase the risk of developing blood clots. The most common genetic mutations associated with thrombophilia are mutations in the genes that control the production and function of clotting factors.

However, it's important to note that having a genetic mutation does not necessarily mean that an individual will develop thrombophilia. Other factors, such as lifestyle factors and medical conditions, can also contribute to the development of thrombophilia.

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# RSIDGeneRisk AlleleGenotypePubmed ID PopulationP-ValueWeight
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1 rs1801133 MTHFR A AG[PMID: 30466296]; [PMID: 34707639];European; East Asians; West Asians; [PMID: 20031578]: 8 x 10-35; [PMID: 34707639]: 4 x 10-104;-1.3
+
2 rs1799889 SERPINE A AA[PMID 9700201]; [PMID 16424345]; [PMID: 23180602]; [PMID: 31948344]None [PMID: 31948344]: 0,05-1.0
+
3 rs1800790 FGB A AG [PMID 29235504]; [PMID: 31354890]None [PMID: 29235504]: 0.001-0.3
+
4 rs8176719 ABO C C-[PMID: 22672568]; [PMID 21463476];European [PMID: 22672568]: 6 x 10-12-0.3
+
5 rs2519093 ABO T CC[PMID: 21463476]; [PMID: 33512453]; [PMID: 31420334]European; African American; [PMID: 31420334]: 4 x 10-1690.0
+
6 rs6025 F5 C CC[PMID 28373160]; [PMID 23900608]; [PMID 14996674]; [PMID 10666427]; [PMID 10477778]; European; African American; [PMID: 31676865]: 1 x 10-300; 0.0
+
7 rs1799963 F2 G GG[PMID 23900608]; [PMID 19404532];[PMID 22784820];European [PMID: 26908601]:1 x 10-240.0
+
8 rs5918 ITGB3 T TT[PMID 8598867]; [PMID 9700201]; [PMID 11723016]; None [PMID: 9700201]: 0,010.0
+
9 rs2036914 F11 T TT[PMID: 19583818]; [PMID: 31420334]; [PMID 21232005]; [PMID 23150947]; [PMID: 25091233]European; African Americans [PMID 31420334]: 2 x 10-540.0

Identification of Crucial Genotypes

Beneficial Genotypes:

rs2519093 (ABO, CC): This genotype is not associated with an increased risk of venous thromboembolism (VTE). NCBI Link

rs6025 (F5, CC): This genotype is not associated with an increased risk of thrombophilia. NCBI Link

rs1799963 (F2, GG): This genotype is associated with a normal/common risk of thrombosis. NCBI Link

rs5918 (ITGB3, TT): This genotype is not associated with an increased risk of heart diseases, and aspirin is efficient as an anti-thrombotic drug. NCBI Link

rs2036914 (F11, TT): This genotype is favorable and not associated with an increased risk of deep vein thrombosis (DVT). NCBI Link

Detrimental Genotypes:

rs1801133 (MTHFR, AG): This genotype is associated with an increased risk of hyperhomocysteinemia and thrombophilia. NCBI Link

rs1800790 (FGB, AG): This genotype is associated with an increased risk of cardiovascular diseases. NCBI Link

rs8176719 (ABO, C-): This genotype is associated with an increased risk of venous thromboembolism (VTE). NCBI Link

rs1799889 (SERPINE, AA): This genotype is associated with an increased risk of blood clots, atherosclerosis, and coronary artery disease. NCBI Link

Interactions Between Genotypes

The combination of the rs1799889 (SERPINE, AA) and rs5918 (ITGB3, TT) genotypes may amplify the risk of myocardial infarction, particularly in males. The concurrent carrier status of these two genetic variants conferred a high risk for the development of myocardial infarction in a Finnish study population.

Risk Assessment

Longevity Related Risks:

rs1801133 (MTHFR, AG): Increased risk of hyperhomocysteinemia and thrombophilia, which can affect overall longevity.

rs1799889 (SERPINE, AA): Increased risk of blood clots, atherosclerosis, and coronary artery disease, which can impact longevity.

General Risks:

rs1800790 (FGB, AG): Increased risk of cardiovascular diseases.

rs8176719 (ABO, C-): Increased risk of venous thromboembolism (VTE).

Risk Reduction Strategies

For rs1801133 (MTHFR, AG): Consider increasing intake of folic acid and vitamin B12 through diet or supplements to mitigate the risk of hyperhomocysteinemia and thrombophilia.

For rs1800790 (FGB, AG): Regular cardiovascular check-ups, maintaining a healthy diet, and engaging in regular physical activity can help reduce the risk of cardiovascular diseases.

For rs1799889 (SERPINE, AA): Regular monitoring of blood clotting factors, maintaining a healthy weight, and avoiding smoking can help reduce the risk of blood clots, atherosclerosis, and coronary artery disease.

For rs8176719 (ABO, C-): Regular monitoring for signs of venous thromboembolism and maintaining an active lifestyle can help mitigate the risk.

Additional Insights

It is important to consult with a healthcare provider or a genetic counselor to discuss these findings in detail and to develop a personalized health plan based on this genomic information. Regular health check-ups and lifestyle modifications can play a significant role in managing the risks associated with these genetic variants.

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# RSIDGeneRisk AlleleGenotypePubmed ID PopulationP-ValueWeight
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1 rs10921078 RGS18 G GG[PMID 21183627]Caucasian; African-American 7.17E-5-1.0
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2 rs11715829 ZIC4 T TT[PMID 21183627] Caucasian 8.68E−6 -1.0
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3 rs6552828 ACSL1 A AA[PMID 21183627]; [PMID: 23990238] Caucasian 1.31E-6 -1.0
+
4 rs1956197 DAAM1 C CC[PMID 21183627] Caucasian 1.43E-5 -1.0
+
5 rs824205 NDN C CT[PMID 21183627] Caucasian 3.45E-50.0
+
6 rs429358 APOE T CT[PMID 24571688]; [PMID 14767871]Chinese; Caucasian 0.020.0
+
7 rs7412 APOE C TC[PMID 24571688]; [PMID 14767871]Chinese; Caucasian 0.020.0
+
8 rs4952535 FLJ44450 A AG[PMID 21183627]Caucasian 1.01E-40.0
+
9 rs17602729 AMPD1 A GG[PMID 21967077]; [PMID 2783984] Caucasian 0.040.0
+
10 rs2030398 NLGN1 G GG[PMID 21183627]Caucasian 1.32E-40.0
+
11 rs6090314 BIRC7, YTHDF1 G GG[PMID 21183627]; [PMID: 23990238] Caucasian 6.4E−50.0
+
12 rs1695 GSTP1 A GG[PMID 25435667] Caucasian 0.0291.0

Identification of Crucial Genotypes

Beneficial Genotypes:

GSTP1 (rs1695): The GG genotype is associated with a high VO2max training response. The GSTP1 gene encodes an enzyme that detoxifies harmful substances and protects against oxidative stress. The G allele is linked to increased reactive oxygen species (ROS), which can activate beneficial cellular pathways like mitochondrial biogenesis. More info.

APOE (rs7412): The TC genotype indicates the presence of the Apoε2 allele, which is protective against some cardiovascular and neurodegenerative conditions. More info.

Detrimental Genotypes:

RGS18 (rs10921078): The GG genotype is associated with a low VO2max training response. The RGS18 gene regulates cellular signaling pathways, influencing muscle contraction, blood flow, and energy utilization. More info.

ZIC4 (rs11715829): The TT genotype is associated with a low VO2max training response. The ZIC4 gene is involved in neural development, which can indirectly affect athletic abilities. More info.

ACSL1 (rs6552828): The AA genotype is associated with a low VO2max training response. The ACSL1 gene plays a crucial role in lipid metabolism, affecting endurance and aerobic capacity. More info.

DAAM1 (rs1956197): The CC genotype is associated with a low VO2max training response. The DAAM1 gene affects cellular shape and movement. More info.

Interactions Between Genotypes

The presence of beneficial genotypes like GSTP1 (rs1695) and APOE (rs7412) may mitigate some of the negative effects of detrimental genotypes like RGS18 (rs10921078) and ACSL1 (rs6552828). For example, the high VO2max training response associated with GSTP1 could potentially offset the low VO2max response linked to RGS18.

Risk Assessment

Longevity Related Risks:

APOE (rs7412): The TC genotype is protective against cardiovascular and neurodegenerative conditions, potentially contributing to increased longevity.

General Risks:

RGS18 (rs10921078): The GG genotype is associated with a low VO2max training response, which could impact overall fitness and athletic performance.

ACSL1 (rs6552828): The AA genotype is associated with a low VO2max training response, affecting endurance and aerobic capacity.

Risk Reduction Strategies

For RGS18 and ACSL1: Engage in regular cardiovascular exercise to improve VO2max and overall fitness. Consider a diet rich in antioxidants to support cellular health and reduce oxidative stress.

For APOE: Maintain a heart-healthy diet, rich in omega-3 fatty acids, and engage in regular physical activity to support cardiovascular and brain health.

Additional Insights

The presence of the GSTP1 GG genotype suggests a strong response to high-intensity training, which could be leveraged to optimize athletic performance. Additionally, the protective effects of the APOE TC genotype against cardiovascular and neurodegenerative conditions highlight the importance of maintaining a healthy lifestyle to maximize these genetic benefits.

Identification of Crucial Genotypes

Beneficial Genotypes:

Several beneficial genotypes have been identified that are associated with increased longevity and better health outcomes. For instance, the rs11591147 (PCSK9) genotype is linked to reduced risk of heart disease due to lower LDL cholesterol levels. Similarly, the rs2802292 (FOXO3) genotype is associated with increased longevity across multiple populations. Other beneficial genotypes include rs5744256 (IL18) and rs1043618 (HSPA1A), which are linked to better physical function and stress response, respectively.

Detrimental Genotypes:

Several detrimental genotypes have been identified that are associated with increased health risks. For example, the rs1801133 (MTHFR) genotype is linked to an increased risk of hyperhomocysteinemia and thrombophilia. The rs429358 (APOE) genotype is associated with a higher risk of Alzheimer's disease and decreased longevity. Other detrimental genotypes include rs4977756 (CDKN2B-AS1) and rs1800790 (FGB), which are linked to cardiovascular diseases and various cancers.

Interactions Between Genotypes

Interactions between beneficial and detrimental genotypes can influence overall health outcomes. For instance, the presence of beneficial genotypes like rs11591147 (PCSK9) and rs2802292 (FOXO3) may mitigate some of the risks posed by detrimental genotypes such as rs1801133 (MTHFR) and rs429358 (APOE). However, the exact nature of these interactions would require further study.

Risk Assessment

Longevity Related Risks:

Several genotypes are associated with increased longevity, such as rs2802292 (FOXO3) and rs11591147 (PCSK9). However, detrimental genotypes like rs429358 (APOE) and rs1801133 (MTHFR) pose significant risks to longevity due to their associations with Alzheimer's disease and cardiovascular issues.

General Risks:

Genotypes such as rs1800790 (FGB) and rs4977756 (CDKN2B-AS1) are linked to general health risks, including cardiovascular diseases and various cancers. These risks can impact overall health and quality of life.

Risk Reduction Strategies

To mitigate the risks associated with detrimental genotypes, consider the following strategies:

Additional Insights

While the presence of certain genotypes can increase the risk of specific health conditions, it is important to remember that genetics is only one factor. Environmental factors, lifestyle choices, and other genetic variants also play significant roles in determining overall health. Regular check-ups and personalized medical advice are essential for managing health risks effectively.