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 may change our 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," said Dr. Cho, who is also director of the Inflammatory Bowel Disease Center at Yale.
While mutations of the gene which codes for a receptor in a major inflammatory pathway are strongly associated with Crohn's disease, surprisingly, Consortium researchers report that one type of mutation may confer significant protection and identify potential targets for drugs therapies for the management of Crohn's disease and ulcerative colitis.
To identify additional genes that are associated with IBD, the international team of researchers scanned the genome some 22,000 by testing more than 300,000 nucleotide polymorphisms, or SNPs, in people with Crohn's disease, and a similar number of people without IBD. The scan led to an unexpected discovery.
Although several polymorphisms were associated with a significantly increased risk of developing IBD, one appeared to confer a very strong protection against IBD.
"Of all the SNPs we studied in people with and without IBD, this protective SNP was the most statistically significant finding in our study. So, it took us a bit by surprise," said first author, Richard H. Duerr, M.D., associate professor of medicine and human genetics, University of Pittsburgh. "What it means in terms of
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Contact: Sophie Langlois
sophie.langlois@umontreal.ca
514-343-7704
University of Montreal
26-Oct-2006