Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations.

ABSTRACT:

Background

Dyslipidemia is a major risk factor for cardiovascular disease, and diabetes impacts the lipid metabolism through multiple pathways. In addition to the standard lipid measurements, apolipoprotein concentrations provide added awareness of the burden of circulating lipoproteins. While common genetic variants modestly affect the serum lipid concentrations, rare genetic mutations can cause monogenic forms of hypercholesterolemia and other genetic disorders of lipid metabolism. We aimed to identify low-frequency protein-altering variants (PAVs) affecting lipoprotein and lipid traits.

Methods

We analyzed whole-exome (WES) and whole-genome sequencing (WGS) data of 481 and 474 individuals with type 1 diabetes, respectively. The phenotypic data consisted of 79 serum lipid

SUBMITTER: Sandholm N 

PROVIDER: S-EPMC9685920 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature