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

Niemsiri, V and Wang, X and Pirim, D and Radwan, ZH and Bunker, CH and Barmada, MM and Kamboh, MI and Demirci, FY (2015) Genetic contribution of SCARB1 variants to lipid traits in African Blacks: A candidate gene association study. BMC Medical Genetics, 16 (1).

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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.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Niemsiri, Vvin4@pitt.eduVIN4
Wang, Xxbw1@pitt.eduXBW1
Pirim, Ddip16@pitt.eduDIP16
Radwan, ZH
Barmada, MMbarmada@pitt.eduBARMADA
Kamboh, MIkamboh@pitt.eduKAMBOH
Demirci, FYfyd1@pitt.eduFYD1
Date: 12 November 2015
Date Type: Publication
Journal or Publication Title: BMC Medical Genetics
Volume: 16
Number: 1
DOI or Unique Handle: 10.1186/s12881-015-0250-6
Schools and Programs: Graduate School of Public Health > Epidemiology
Graduate School of Public Health > Human Genetics
Refereed: Yes
Date Deposited: 26 Jul 2016 18:25
Last Modified: 30 Mar 2021 17:55


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