rs662799

This variant is located in the APOA5 gene.

GWAS Catalog Trait Associations (30)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

triglyceride measurement

Allele A
OR 0.29
p
N 146,492
Large GWAS
East Asian
Allele A
OR 0.25
p 4.0e-315
N 206,044
Large GWAS
multi-ancestry
Allele A
OR 0.21
p 3.0e-11
N 13,814
Large GWAS
European
Allele A
OR 0.08
p 4.0e-213
N 8,344
Large GWAS
East Asian
Allele A
OR 0.34
p 3.0e-16
N 2,782
Large GWAS
multi-ancestry
Allele A
OR 0.14
p 6.0e-24
N 1,782
Large GWAS
Asian unspecified
Allele A
OR
β 0.369
p 2.0e-163
N 1,531
Large GWAS
East Asian

metabolic syndrome

Allele A
OR 0.31
p 7.0e-164
N 107,230
Large GWAS
East Asian
Allele A
OR 1.35
p 3.0e-10
N 7,423
Large GWAS
East Asian

high density lipoprotein cholesterol measurement

Allele G
OR 2.52
p 2.0e-85
N 8,344
Large GWAS
East Asian
Allele G
OR 0.10
p 3.0e-71
N 222,097
Large GWAS
multi-ancestry
Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele G
OR 0.10
p 8.0e-44
N 136,016
Large GWAS
multi-ancestry
Allele G
OR 1.47
p 2.0e-16
N 7,423
Large GWAS
East Asian
Allele G
OR 0.05
p 7.0e-32
N 6,949
Large GWAS
East Asian
Allele G
OR 0.04
p 8.0e-26
N 2,431
Large GWAS
East Asian

apolipoprotein A-V measurement

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.38
p 2.0e-44
N 10,708
Large GWAS
European

Hypertriglyceridemia

Allele G
OR 1.77
p 5.0e-34
N 7,423
Large GWAS
East Asian

cholesterol:total lipids ratio, low density lipoprotein cholesterol measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele A
OR 0.09
p 2.0e-32
N 136,016
Large GWAS
multi-ancestry

HMG CoA reductase inhibitor use measurement

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.11
p 3.0e-29
N 178,726
Large GWAS
East Asian

Research that mentions this SNP (4)

Genetic variation of FTO: rs1421085 T&gt;C, rs8057044 G&gt;A, rs9939609 T&gt;A, and copy number (CNV) in Mexican Mayan school‐aged children with obesity/overweight and with normal weight
ReviewLizbeth González‐Herrera et al.(2019)· American Journal of Human Biology

A literature review of 70 studies examining single nucleotide polymorphisms (SNPs) associated with obesity in Mexican populations published 2011-2021. The authors identified SNPs with differential behavior in Mexican compared to Caucasian populations, including rs17782313 (MC4R), rs6548238 (TMEM18), rs6265 (BDNF), rs7498665 (SH2B1), and notably rs6232 (PCSK1) associated with early-onset obesity in Mexican youth. The review emphasizes ethnicity-dependent genetic effects on BMI heritability (40-70%) and highlights genes involved in cholesterol metabolism and adipokine signaling pathways.

Traits studied:AdiposityBlood pressureBody mass index (BMI)Cardiovascular risk factorsDyslipidemiaInsulin resistanceMetabolic syndromeObesityOverweightType 2 diabetes
Limited use of interleukin 28B in the setting of response-guided treatment with detailed on-treatment virological monitoring
ReviewAlessandra Mangia et al.(2011)· Hepatology

This is a special issue of the Italian medical journal BeAdfiles (September 2012) dedicated to genetic conditioning in HIV and hepatitis virus infections. It reviews the major genetic polymorphisms that influence disease progression, treatment response, and drug toxicity in HIV and chronic hepatitis B and C infections, with particular emphasis on IL28B polymorphisms (rs809917 and others) predicting HCV treatment response to interferon-alpha and ribavirin therapy, and ITPA gene variants protecting against ribavirin-induced anemia. The issue also covers pharmacogenetic markers (CYP2B6, ABCB1, HLA-B*5701) and their clinical applications in antiretroviral therapy.

Traits studied:AIDS progressionAntiretroviral therapy toxicityChronic hepatitis C sustained virological responseCreutzfeldt-Jakob diseaseDyslipidemiaEfavirenz side effectsHIV infection and progressionHepatitis B virus infectionHepatitis C genotype 1 response to interferonHepatitis C virus infectionHyperbilirubinemiaLeprosyLipodystrophyNeisseria meningitidis infectionNorovirus diarrheaPlasmodium falciparum malariaPlasmodium vivax malariaRenal impairmentRibavirin-induced anemiaTreatment response to interferon and ribavirinTuberculosis
The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits
AssociationN=4,554Webster RJ et al.(2009)· Diabetologia

This longitudinal study of 4,554 participants from the Busselton Health Survey examined associations between four SNPs in APOA5, LPL, and GCK genes with glucose and lipid traits over time. Cross-sectional analyses confirmed that GCK rs1799884 was associated with fasting glucose (beta=0.01, p=0.003), APOA5 rs662799 and rs3135506 with triacylglycerol levels (p<0.0001), and LPL rs328 with reduced triacylglycerol and raised HDL-C. Longitudinal analyses (n=2,864) showed these genetic effects on lipid and glucose traits remain stable with age during adulthood.

Traits studied:HDL-cholesterolLDL-cholesterolfasting glucosefasting insulininsulin resistancetriacylglyceroltype 2 diabetes
Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke
ReviewGretarsdottir S. et al.(2008)· Annals of Neurology

This review examines 15 years of ischemic stroke susceptibility gene research, organized into three periods: early candidate gene studies (1985-1995) testing variants in hemostasis and homocysteine metabolism genes; expansion period with functional variants discovered from other diseases tested on larger stroke cohorts; and current GWAS-driven large-scale genotyping studies. Key findings include identification of susceptibility loci in CELSR1 (rs6007897, rs4044210 in Japanese populations), PITX2 (rs2200733, rs10033464), and other genes involved in lipid metabolism (APOA5, APOCIII, MLXIPL) and signal transduction (PDE4D, ALOX5AP), with evidence that alleles are often shared across diseases and that careful clinical stratification is critical.

Traits studied:Atrial fibrillationCardioembolic strokeCerebral artery diseaseIschemic strokeLarge-vessel atherosclerotic strokeMyocardial infarctionSmall-vessel occlusion strokeThromboembolismVenous thrombosis

About APOA5

The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]

View all APOA5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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