rs114627122
This variant is located in the APOA5 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Single nucleotide polymorphism associated with nonsyndromic cleft palate influences the processing of miR‐140AssociationN=116Ling Li et al.(2010)· American Journal of Medical Genetics Part A
This case-control study of 57 children/adolescents with metabolic syndrome (MetS) and 59 controls examined five SNPs in the APOA5 gene's miRNA target sites. Only rs72525532 (c.*285_*286insGA) showed variation, with the AA insertion genotype significantly more frequent in MetS cases (12.28%) versus controls (1.7%, P=0.012) and associated with increased triglycerides and MetS risk (OR=8.12, P=0.05), though this association became non-significant after age adjustment (OR=5.66, P=0.124).
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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