Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease.

ABSTRACT:

Aims

Scavenger receptor Class B Type 1 (SR-BI) is a major receptor for high-density lipoprotein (HDL) that promotes hepatic uptake of cholesterol from HDL. A rare mutation p.P376L, in the gene encoding SR-BI, SCARB1, was recently reported to associate with elevated HDL cholesterol (HDL-C) and increased risk of coronary artery disease (CAD), suggesting that increased HDL-C caused by SR-BI impairment might be an independent marker of cardiovascular risk. We tested the hypothesis that alleles in or close to SCARB1 that associate with elevated levels of HDL-C also associate with increased risk of CAD in the relatively homogeneous population of Iceland.

Methods and results

Using a large resource of whole-genome sequenced Icelanders, we identified thirteen SCARB1 coding mutations

SUBMITTER: Helgadottir A 

PROVIDER: S-EPMC6001888 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature