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Scientists find major susceptibility genes for Crohn's disease

A consortium of Canadian and American researchers led by Dr. John D. Rioux, PhD, Associate Professor of Medicine at the Montreal Heart Institute and the Universit de Montral, report in the April 15 online edition of Nature Genetics the results from a search of the entire human genome for genetic risk factors leading to the development of Crohn's disease. Specifically, using a novel approach, the authors identified that the PHOX2B, NCF4 and ATG16L1 genes constitute genetic risk factors for Crohn's disease. In addition, their study identified two regions of the genome where genetic risk factors are located but no known genes were implicated further work will be necessary to identify the causal genes in these regions.

More than 1 million Americans and some 170,000 Canadians 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. In addition to the Montreal Heart Institute and Universit de Montral, the Consortium's member institutions include the Cedars-Sinai Medical Center in Los Angeles, the University of Chicago, the Johns Hopkins University, the University of Pittsburgh, the University of Toronto, and Yale University.

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 mutations in a gene known as CARD15, those mutations alone are not considered to account for the entire genetic component of disease. To identify additional genes that are associated with IBD, the international team of researchers scanned the genomeall of 22,000 or so genes by testing more than 300,000 single nucleotide polymorphisms, or SNPs, in people with C
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Contact: Sophie Langlois
sophie.langlois@umontreal.ca
514-343-7704
University of Montreal
16-Apr-2007


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