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

ABSTRACT: 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. Here, we comprehensively map eQTLs in the human colon, assess their relevance for GWAS of colonic diseases and provide functional characterization. Subjects included 40 healthy African American individuals who had undergone colonoscopy at the University of Illinois Chicago for screening purposes. Distal colonic biopsies were obtained in all subjects at 20 cm from the anal verge

ORGANISM(S): Homo sapiens

SUBMITTER: Sonia Kupfer 

PROVIDER: E-GEOD-56789 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress