DNA Sequence Variation in <i>ACVR1C</i> Encoding the Activin Receptor-Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes.

ABSTRACT: A genetic predisposition to higher waist-to-hip ratio adjusted for BMI (WHRadjBMI), a measure of body fat distribution, associates with increased risk for type 2 diabetes. We conducted an exome-wide association study of coding variation in UK Biobank (405,569 individuals) to identify variants that lower WHRadjBMI and protect against type 2 diabetes. We identified four variants in the gene ACVR1C (encoding the activin receptor-like kinase 7 receptor expressed on adipocytes and pancreatic β-cells), which independently associated with reduced WHRadjBMI: Asn150His (-0.09 SD, P = 3.4 × 10^-17), Ile195Thr (-0.15 SD, P = 1.0 × 10^-9), Ile482Val (-0.019 SD, P = 1.6 × 10^-5), and rs72927479 (-0.035 SD, P = 2.6 × 10^-12). Car

SUBMITTER: Emdin CA 

PROVIDER: S-EPMC6302541 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature