<i>Trans</i>-ancestry Fine Mapping and Molecular Assays Identify Regulatory Variants at the <i>ANGPTL8</i> HDL-C GWAS Locus.

ABSTRACT: Recent genome-wide association studies (GWAS) have identified variants associated with high-density lipoprotein cholesterol (HDL-C) located in or near the ANGPTL8 gene. Given the extensive sharing of GWAS loci across populations, we hypothesized that at least one shared variant at this locus affects HDL-C. The HDL-C-associated variants are coincident with expression quantitative trait loci for ANGPTL8 and DOCK6 in subcutaneous adipose tissue; however, only ANGPTL8 expression levels are associated with HDL-C levels. We identified a 400-bp promoter region of ANGPTL8 and enhancer regions within 5 kb that contribute to regulating expression in liver and adipose. To identify variants functionally responsible for the HDL-C association, we performed fine-mapping

SUBMITTER: Cannon ME 

PROVIDER: S-EPMC5592946 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature