Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood.

ABSTRACT: Genome-wide association studies (GWASs) have uncovered susceptibility loci for a large number of complex traits. Functional interpretation of candidate genes identified by GWAS and confident assignment of the causal variant still remains a major challenge. Expression quantitative trait (eQTL) mapping has facilitated identification of risk loci for quantitative traits and might allow prioritization of GWAS candidate genes. One major challenge of eQTL studies is the need for larger sample numbers and replication. The aim of this study was to evaluate the robustness and reproducibility of whole-blood eQTLs in humans and test their value in the identification of putative functional variants involved in the etiology of complex traits. In the current study, we performed comphrehensive eQTL mappi

SUBMITTER: Mehta D 

PROVIDER: S-EPMC3522194 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature