Other Statistics and Probability Commons^™

Trans-Ancestry Fine Mapping And Molecular Assays Identify Regulatory Variants At The Angptl8 Hdl-C Gwas Locus, Maren E. Cannon, Qing Duan, Ying Wu, Monica Zeynalzadeh, Zheng Xu, Antti J. Kangas, Pasi Soininen, Mika Ala-Korpela, Mete Civelek, Aldons J. Lusis, Johanna Kuusisto, Francis S. Collins, Michael Boehnke, Hua Tang, Markku Laakso, Yun Li, Karen L. Mohlke

Department of Statistics: Faculty Publications

Recent genome-wide association studies (GWAS) have identified variants associated with highdensity 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 …