Dataset Information

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 for genotyping in the total sample of 623 subjects followed by association analyses with lipid traits. Seven variants were nominally associated with apolipoprotein B (apoB; n=4) or HDL-C (n=3; P<0.05). Three variants associated with apoB remained significant after controlling false discovery rate. The most significant association was observed between rs4765615 and apoB (P=0.0059), while rs11057844 showed the strongest association with HDL-C (P=0.0035). A set of 17 rare variants (minor allele frequency ?1%) showed significant association with apoB (P=0.0284). Haplotype analysis revealed 4 regions significantly associated with either apoB or HDL-C. CONCLUSIONS:Our findings provide new information about the genetic role of SCARB1 in affecting plasma apoB levels in addition to its established role in HDL-C metabolism.

SUBMITTER: Niemsiri V

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

REPOSITORIES: biostudies-literature

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

Niemsiri Vipavee V Wang Xingbin X Pirim Dilek D Radwan Zaheda H ZH Hokanson John E JE Hamman Richard F RF Barmada M Michael MM Demirci F Yesim FY Kamboh M Ilyas MI

Circulation. Cardiovascular genetics 20140922 6

<h4>Background</h4>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.<h4>Methods and results</h4>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 f ...[more]

PMID: 25245032

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Dataset Information

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

Publications

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

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