Oct. 26 -- A consortium of American and Canadian researchers report in Science Express, a rapid online publication by the journal Science, the discovery of a new genetic link to Crohn's disease. Mutations of a gene, which codes for a receptor in a major inflammatory pathway, are strongly associated with Crohn's disease, the researchers found. Surprisingly, one type of mutation appears to confer significant protection, prioritizing a crucial target for drugs that might better manage Crohn's disease and ulcerative colitis.
More than 1 million Americans have Crohn's or colitis, known collectively as inflammatory bowel disease (IBD).
The study's authors represent the IBD Genetics Consortium, which is funded by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) of the National Institutes of Health (NIH). The Consortium's member institutions include Cedars-Sinai Medical Center in Los Angeles, the University of Chicago, Johns Hopkins University, Universit de Montral, the University of Pittsburgh, Mount Sinai Hospital in Toronto and the University of Toronto, and Yale University.
According to senior author Judy H.Cho, M.D., associate professor in the departments of medicine and genetics at Yale School of Medicine, the findings highlight a major inflammatory pathway and change in thinking about disease-associated genetic variation. "This pathway is particularly intriguing because we appear to have identified a gene variant that protects against development of IBD, a finding that may lead us to think about the genetics of health as much as about the genetics of disease," said Dr. Cho, who also is director of the Inflammatory Bowel Disease Center at Yale.
Because IBD tends to run in families and is more frequent in certain ethnic populations, especially Ashkenazi Jews, scientists have long suspected a significant genetic component. Although previous genetic studies found a link between Crohn's disease and mu
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26-Oct-2006