Dissecting the regulatory architecture of gene expression QTLs.

ABSTRACT:

Background

Expression quantitative trait loci (eQTLs) are likely to play an important role in the genetics of complex traits; however, their functional basis remains poorly understood. Using the HapMap lymphoblastoid cell lines, we combine 1000 Genomes genotypes and an extensive catalogue of human functional elements to investigate the biological mechanisms that eQTLs perturb.

Results

We use a Bayesian hierarchical model to estimate the enrichment of eQTLs in a wide variety of regulatory annotations. We find that approximately 40% of eQTLs occur in open chromatin, and that they are particularly enriched in transcription factor binding sites, suggesting that many directly impact protein-DNA interactions. Analysis of core promoter regions shows that eQTLs also frequently disru

SUBMITTER: Gaffney DJ 

PROVIDER: S-EPMC3334587 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature