Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci.

ABSTRACT:

Background

Genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) associated with diseases of the colon including inflammatory bowel diseases (IBD) and colorectal cancer (CRC). However, the functional role of many of these SNPs is largely unknown and tissue-specific resources are lacking. Expression quantitative trait loci (eQTL) mapping identifies target genes of disease-associated SNPs. This study provides a comprehensive eQTL map of distal colonic samples obtained from 40 healthy African Americans and demonstrates their relevance for GWAS of colonic diseases.

Results

8.4 million imputed SNPs were tested for their associations with 16,252 expression probes representing 12,363 unique genes. 1,941 significant cis-eQTL, corresponding to

SUBMITTER: Hulur I 

PROVIDER: S-EPMC4351699 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature