PITTSBURGH, 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. While most of the mutations in the gene, which codes for a receptor in a major inflammatory pathway, are strongly associated with Crohn's, surprisingly, one type of mutation appears to confer significant protection. The finding, say the researchers, points to 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).
"Crohn's and colitis are chronic conditions that profoundly impact the day-to-day lives of affected individuals. Moreover, inflammatory bowel disease often runs in families, making the pinpointing of the responsible genes especially important if we are to find ways to better treat or even prevent IBD," said first author of the study, Richard H. Duerr, M.D., associate professor of medicine and human genetics at the University of Pittsburgh.
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.
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). In addition to the University of Pittsburgh an
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26-Oct-2006