Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies.

Background: Identification of single nucleotide polymorphisms (SNPs) associated with gene expression levels, known as expression quantitative trait loci (eQTLs), may improve understanding of the functional role of phenotype-associated SNPs in genome-wide association studies (GWAS). The small sample sizes of some previous eQTL studies have limited their statistical power. We conducted an eQTL investigation of microarray-based gene and exon expression levels in whole blood in a cohort of 5257 individuals, exceeding the single cohort size of previous studies by more than a factor of 2.

NCBI's Database of Genotypes and Phenotypes: dbGaP.

The Database of Genotypes and Phenotypes (dbGap, http://www.ncbi.nlm.