Impact of genetic variants in human scavenger receptor class B type I (SCARB1) on plasma lipid traits.

ABSTRACT:

Background

Scavenger receptor class B type 1 (SCARB1) plays an important role in high-density lipoprotein cholesterol (HDL-C) metabolism in selective cholesteryl ester uptake and in free cholesterol cellular efflux.

Methods and results

This study aims to identify common (minor allele frequency ≥5%) and low-frequency/rare (minor allele frequency <5%) variants, using resequencing all 13 exons and exon-intron boundaries of SCARB1 in 95 individuals with extreme HDL-C levels selected from a population-based sample of 623 US non-Hispanic whites. The sequencing step identified 44 variants, of which 11 were novel with minor allele frequency <1%. Seventy-six variants (40 sequence variants, 32 common HapMap tag single nucleotide polymorphisms, and 4 relevant variants) were selected fo

SUBMITTER: Niemsiri V 

PROVIDER: S-EPMC4270916 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature