rs2072560

This is a regulatory region variant variant in the APOA5 gene.

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GWAS Catalog Trait Associations (27)

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

metabolic syndrome

Ho CY et al. “A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.” Nutrients 16(1) (2023)
Allele C
OR 0.22
p 6.0e-66
N 107,230
Large GWAS
East Asian

triglycerides:total lipids ratio, blood VLDL cholesterol amount

Riveros-Mckay F et al. “The influence of rare variants in circulating metabolic biomarkers.” Plos Genetics 16(3):e1008605 (2020)
Allele T
OR 0.27
p 1.0e-14
N 7,142
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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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
PubMedDOIMetascience Observatory

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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