An international genomic study of inflammatory bowel disorder (IBD) led by Judy H. Cho, M.D., the Henry J. and Joan W. Binder Professor of Gastroenterology and professor of genetics, has received a Top 10 Clinical Research Achievement Award from the Clinical Research Forum, a Washington, D.C.-based organization that provides leadership to the national clinical and translational research enterprise and promotes understanding of and support for clinical research and its contributions to health. Cho’s study was one of the largest of its kind ever conducted and was published in the journal Nature in 2012. Nearly 100 scientists in 15 countries contributed to the research, which threw new light on the genetic basis of IBD, a group of chronic autoimmune digestive disorders affecting 2.5 million people worldwide. To complete the study, members of the International IBD Genetics Consortium collected 41,000 DNA samples from Crohn’s disease (CD) or ulcerative colitis (UC) patients and healthy comparison subjects at 11 centers around the world.
In addition to confirming that 92 regions identified in previous studies confer a significant risk of CD, UC, or both, the study linked 71 additional stretches of the genome to IBD. The IBD-linked variants largely fall in genomic regions that regulate the expression of immune-system genes implicated in other autoimmune diseases, particularly psoriasis, a skin disease, and a disorder of the spine and pelvis known as ankylosing spondylitis. Genes affected by these regulatory regions are also involved in the production of immune cells that fight infections by mycobacteria, a family of microbes that cause such diseases as leprosy and tuberculosis.
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