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Research team identifies additional genetic risk factors for Crohn's disease

An international research team including investigators from Massachusetts General Hospital (MGH) and the Broad Institute of Harvard University and Massachusetts Institute of Technology has identified several novel genetic variations associated with the risk of Crohn's disease. One of the identified genes establishes a role for autophagy, a previously unsuspected biological pathway, in Crohn's disease pathology; and the report documents functional studies which establish that this gene is integral to immune responses to intestinal bacteria. The report will appear in the journal Nature Genetics and is receiving early online release.

"Our discovery of several new genetic risk factors for Crohn's should improve understanding of the true causes of this disease and reveal new causal pathways that can be targeted therapeutically," says Mark Daly, PhD, of the MGH Center for Human Genetics Research and the Broad Institute, co-senior author of the Nature Genetics paper. "The study takes advantage of new knowledge of genetic variation patterns and new technology for assessing genetic variation that have only recently become available."

A chronic inflammatory bowel disease for which no single causative factor has been identified, Crohn's usually affects the small intestine, causing abdominal pain and chronic diarrhea. Serious symptoms can include ulceration, bleeding, the development of fistulas openings from affected areas into other organs or intestinal blockage. About half a million people in the U.S.are affected by Crohn's, and another half-million have a related condition called ulcerative colitis. Since Crohn's can run in families and is more common in some ethnic populations, it is likely to have genetic components. Previous studies have identified two genetic variations as increasing the risk for Crohn's, but those factors only account for a small percentage of inherited cases.

One of the known risk genes was identified i
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Contact: Sue McGreevey
smcgreevey@partners.org
617-724-2764
Massachusetts General Hospital
15-Apr-2007


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