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.
GWAS Catalog Trait Associations (30)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
triglyceride measurement
metabolic syndrome
high density lipoprotein cholesterol measurement
total cholesterol measurement
apolipoprotein A-V measurement
Hypertriglyceridemia
cholesterol:total lipids ratio, low density lipoprotein cholesterol measurement
HMG CoA reductase inhibitor use measurement
bilirubin measurement
depressive symptom measurement, non-high density lipoprotein cholesterol measurement
▶Research that mentions this SNP (4)
▶Genetic variation of FTO: rs1421085 T>C, rs8057044 G>A, rs9939609 T>A, and copy number (CNV) in Mexican Mayan school‐aged children with obesity/overweight and with normal weightReviewLizbeth 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.
▶Limited use of interleukin 28B in the setting of response-guided treatment with detailed on-treatment virological monitoringReviewAlessandra 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.
▶The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traitsAssociationN=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.
▶Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic strokeReviewGretarsdottir 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.
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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