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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2015

Open Access 01-12-2015 | Research article

Genetic contribution of SCARB1 variants to lipid traits in African Blacks: a candidate gene association study

Authors: Vipavee Niemsiri, Xingbin Wang, Dilek Pirim, Zaheda H. Radwan, Clareann H. Bunker, M. Michael Barmada, M. Ilyas Kamboh, F. Yesim Demirci

Published in: BMC Medical Genetics | Issue 1/2015

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Abstract

Background

High-density lipoprotein cholesterol (HDL-C) exerts many anti-atherogenic properties including its role in reverse cholesterol transport (RCT). Scavenger receptor class B member 1 (SCARB1) plays a key role in RCT by selective uptake of HDL cholesteryl esters. We aimed to explore the genetic contribution of SCARB1 to affecting lipid levels in African Blacks from Nigeria.

Methods

We resequenced 13 exons and exon-intron boundaries of SCARB1 in 95 individuals with extreme HDL-C levels using Sanger method. Then, we genotyped 147 selected variants (78 sequence variants, 69 HapMap tagSNPs, and 2 previously reported relevant variants) in the entire sample of 788 African Blacks using either the iPLEX Gold or TaqMan methods. A total of 137 successfully genotyped variants were further evaluated for association with major lipid traits.

Results

The initial gene-based analysis demonstrated evidence of association with HDL-C and apolipoprotein A-I (ApoA-I). The follow-up single-site analysis revealed nominal evidence of novel associations of nine common variants with HDL-C and/or ApoA-I (P < 0.05). The strongest association was between rs11057851 and HDL-C (P = 0.0043), which remained significant after controlling for multiple testing using false discovery rate. Rare variant association testing revealed a group of 23 rare variants (frequencies ≤1 %) associated with HDL-C (P = 0.0478). Haplotype analysis identified four SCARB1 regions associated with HDL-C (global P < 0.05).

Conclusions

To our knowledge, this is the first report of a comprehensive association study of SCARB1 variations with lipid traits in an African Black population. Our results showed the consistent association of SCARB1 variants with HDL-C across various association analyses, supporting the role of SCARB1 in lipoprotein-lipid regulatory mechanism.
Appendix
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Metadata
Title
Genetic contribution of SCARB1 variants to lipid traits in African Blacks: a candidate gene association study
Authors
Vipavee Niemsiri
Xingbin Wang
Dilek Pirim
Zaheda H. Radwan
Clareann H. Bunker
M. Michael Barmada
M. Ilyas Kamboh
F. Yesim Demirci
Publication date
01-12-2015
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2015
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/s12881-015-0250-6

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