Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution.

ABSTRACT:

Context

Biological and translational insights from large-scale, array-based genetic studies of fat distribution, a key determinant of metabolic health, have been limited by the difficulty in linking predominantly noncoding variants to specific gene targets. Rare coding variant analyses provide greater confidence that a specific gene is involved, but do not necessarily indicate whether gain or loss of function (LoF) would be of most therapeutic benefit.

Objective

This work aimed to identify genes/proteins involved in determining fat distribution.

Methods

We combined the power of genome-wide analysis of array-based rare, nonsynonymous variants in 450 562 individuals in the UK Biobank with exome-sequence-based rare LoF gene burden testing in 184 246 individuals.

Resul

SUBMITTER: Koprulu M 

PROVIDER: S-EPMC8947777 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature