Molecular Role of DNA Variants Associated with Crohn's Disease

Crohn's disease (CD), one of the two major inflammatory bowel diseases (IBD), results from an inappropriately directed inflammatory response to the enteric microbiota in a genetically susceptible host. Genome wide association studies (GWAS) have linked >200 specific single nucleotide polymorphisms (SNPs) to CD disease pathogenesis. Within these regions, there are over 5600 additional SNPs that are in linkage disequilibrium (LD) with the tag SNPs, and it is not known which of these contribute to CD. Most of these SNPs map to non-coding regions of the genome, suggesting that causal variants contribute to CD by modifying gene regulatory element activity. In ths study, we have generated genotype, open chromatin (FAIRE-seq), and transcriptome (RNA-seq) data from macroscopically uninflamed regions of colon tissue for 21 CD patients and 11 non-IBD controls. All patients are adults (>18 years old).]]>
This research involves only resected tissue, which is sent to pathology after resection. After inspection by the pathologist, tissue samples will be collected from resected specimen of patients with either Crohn's disease or ulcerative colitis or resected specimen of controls undergoing respective surgery for other reasons. Patients have to have a diagnosis of Crohn's disease or ulcerative colitis confirmed during index surgery. For the control group: any patient undergoing resective surgery for other reasons than IBD such as diverticulitis, diverticulosis or colorectal cancer. Minimum age of subject enrolled 18 years. Maximum age of subject enrolled 70. Pregnant women or women who become pregnant will not be excluded.]]>