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International Team Identifies Genomic Regions Associated with Inflammatory Bowel Disease 

PITTSBURGH, Nov. 1, 2012 – In one of the largest genetic studies ever conducted, an international team that includes researchers from the University of Pittsburgh School of Medicine has uncovered 71 genomic regions associated with inflammatory bowel disease (IBD), which includes Crohn’s disease and ulcerative colitis. The results, published in the Nov. 1 issue of Nature, increase the number of known IBD-associated genomic regions to 163 and suggest that genes involved in defense against infection also play a key role in IBD.
Crohn’s disease and ulcerative colitis affect as many as 1.4 million people in the United States alone, noted Richard Duerr, M.D., professor of medicine, Pitt School of Medicine, co-director and scientific director of the UPMC Inflammatory Bowel Disease Center, and one of 12 co-investigators who conceived, designed and managed the study. Both conditions are characterized by chronic inflammation of the intestine, typically leading to diarrhea and abdominal pain, and sometimes rectal bleeding.
“This research was conducted to fill gaps in our understanding of the genetic predisposition and biological pathways leading to Crohn’s disease and ulcerative colitis,” Dr. Duerr said. “The unprecedented participation of a combined total of more than 75,000 IBD and control study subjects from 15 countries and the willingness of more than 100 scientists and physicians to collaborate and pool resources enabled the study’s success.”
The research team conducted an analysis of combined data from 15 large studies on the genetics of IBD, identifying more than 25,000 single nucleotide polymorphisms (SNPs) or genetic variations with at least suggestive evidence for association with either Crohn’s disease, ulcerative colitis or both forms of IBD. That information was followed up by collecting data from an additional set of more than 41,000 IBD and control samples at 11 centers around the world, including the University of Pittsburgh, to verify that 163 genomic regions, including 71 newly identified ones, are associated with IBD.
Seventy percent of the IBD-associated genomic regions also are home to genetic variants that are associated with other immune-mediated, chronic inflammatory diseases, particularly psoriasis and ankylosing spondylitis, the researchers noted. Also, the IBD-associated genomic regions are enriched with genes linked to immune deficiencies that increase susceptibility to certain infections. The study uncovered pathways shared between responses to mycobacterial infections, such as tuberculosis and leprosy, and those predisposing people to inflammatory bowel disease.
“It’s possible that the biological mechanisms intended to protect us from infection go awry and overreact, triggering inflammation that characterizes IBD,” Dr. Duerr noted.
The research team was co-led by Judy H. Cho, M.D., of Yale University; and Jeffrey Barrett, Ph.D. of Wellcome Trust Sanger Institute, United Kingdom. 
The project was funded in part by the National Institute of Diabetes and Digestive and Kidney Diseases, which is part of the National Institutes of Health; the Crohn’s & Colitis Foundation of America; and the International IBD Genetics Consortium.

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