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).

Preview	PDF Published Version Available under License : See the attached license file. Download (2MB) | Preview
	Plain Text (licence) Available under License : See the attached license file. Download (1kB)

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.

---

Share

Citation/Export:	Select format... Citation - Text Citation - HTML Endnote BibTex Dublin Core OpenURL MARC (ISO 2709) METS MODS EP3 XML Reference Manager Refer
Social Networking:	Share |

---

Details

Item Type:	Article
Status:	Published
Creators/Authors:	Creators Email Pitt Username ORCID Niemsiri, V vin4@pitt.edu VIN4 Wang, X xbw1@pitt.edu XBW1 Pirim, D dip16@pitt.edu DIP16 Radwan, ZH Bunker, CH BUNKERC@pitt.edu BUNKERC Barmada, MM barmada@pitt.edu BARMADA Kamboh, MI kamboh@pitt.edu KAMBOH Demirci, FY fyd1@pitt.edu FYD1
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:	School of Public Health > Epidemiology School of Public Health > Human Genetics
Refereed:	Yes
Date Deposited:	26 Jul 2016 18:25
Last Modified:	30 Mar 2021 17:55
URI:	http://d-scholarship.pitt.edu/id/eprint/28958

---

Metrics

Monthly Views for the past 3 years

Plum Analytics

Altmetric.com

---

Actions (login required)

View Item