Abstract

Doc number: 33

Abstract

Background: High-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and triglyceride (TG) levels are influenced by both genes and the environment. Genome-wide association studies (GWAS) have identified ~100 common genetic variants associated with HDL-C, LDL-C, and/or TG levels, mostly in populations of European descent, but little is known about the modifiers of these associations. Here, we investigated whether GWAS-identified SNPs for lipid traits exhibited heterogeneity by sex in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Results: A sex-stratified meta-analysis was performed for 49 GWAS-identified SNPs for fasting HDL-C, LDL-C, and ln(TG) levels among adults self-identified as European American (25,013). Heterogeneity by sex was established when phet < 0.001. There was evidence for heterogeneity by sex for two SNPs for ln(TG) in the APOA1/C3/A4/A5/BUD13 gene cluster: rs28927680 (phet = 7.4x10-7 ) and rs3135506 (phet = 4.3x10-4 ), one SNP in PLTP for HDL levels (rs7679; phet = 9.9x10-4 ), and one in HMGCR for LDL levels (rs12654264; phet = 3.1x10-5 ). We replicated heterogeneity by sex in five of seventeen loci previously reported by genome-wide studies (binomial p = 0.0009). We also present results for other racial/ethnic groups in the supplementary materials, to provide a resource for future meta-analyses.

Conclusions: We provide further evidence for sex-specific effects of SNPs in the APOA1/C3/A4/A5/BUD13 gene cluster, PLTP, and HMGCR on fasting triglyceride levels in European Americans from the PAGE study. Our findings emphasize the need for considering context-specific effects when interpreting genetic associations emerging from GWAS, and also highlight the difficulties in replicating interaction effects across studies and across racial/ethnic groups.

Details

Title
Investigation of gene-by-sex interactions for lipid traits in diverse populations from the population architecture using genomics and epidemiology study
Author
Taylor, Kira C; Carty, Cara L; Dumitrescu, Logan; Buzková, Petra; Cole, Shelley A; Hindorff, Lucia; Schumacher, Fred R; Wilkens, Lynne R; Shohet, Ralph V; Quibrera, P Miguel; Johnson, Karen C; Henderson, Brian E; Haessler, Jeff; Franceschini, Nora; Eaton, Charles B; Duggan, David J; Cochran, Barbara; Cheng, Iona; Carlson, Chris S; Brown-Gentry, Kristin; Anderson, Garnet; Ambite, Jose Luis; Haiman, Christopher; Le Marchand, Loïc; Kooperberg, Charles; Crawford, Dana C; Buyske, Steven; North, Kari E; Fornage, Myriam
Pages
33
Publication year
2013
Publication date
2013
Publisher
BioMed Central
ISSN
1471-2156
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
1364887089
Copyright
© 2013 Taylor et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.