Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol.

ABSTRACT: Genome-wide association studies (GWAS) have successfully identified loci associated with quantitative traits, such as blood lipids. Deep resequencing studies are being utilized to catalogue the allelic spectrum at GWAS loci. The goal of these studies is to identify causative variants and missing heritability, including heritability due to low frequency and rare alleles with large phenotypic impact. Whereas rare variant efforts have primarily focused on nonsynonymous coding variants, we hypothesized that noncoding variants in these loci are also functionally important. Using the HDL-C gene LIPG as an example, we explored the effect of regulatory variants identified through resequencing of subjects at HDL-C extremes on gene expression, protein levels, and phenotype. Resequencing a portion of

SUBMITTER: Khetarpal SA 

PROVIDER: S-EPMC3234219 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature