Research Projects

Inflammatory Bowel disease (IBD), a condition characterized by Crohn's disease and ulcerative colitis, is caused by a combination of genetic, immunologic, and microbial factors. Human circulating monocytes enter the intestinal lamina propria and regulate cytokine production, which determines the outcome of IBD. Genome-wide association studies have identified multiple loci that make one susceptible to IBD, and several genes have been shown to regulate cytokine production or antibacterial killing. However, the functional consequences of most of these loci have not been identified. A study has been initiated to delineate the functional aspect of rs24488389, an IBD-associated variant. The study found that blood-derived monocytes from AA risk careers produced higher cytokine than the GG haplotypes. The study hypothesizes that C1orf53 is a crucial regulator of immune function and dictates IBD susceptibility in individuals. The study aims to functionally dissect the consequences of disease-associated genetic variation at the rs24488389 locus to correctly attribute an association with a gene.