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Scientists find major susceptibility gene for Crohn's disease

A consortium of Canadian and American researchers report in 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 150,000 Canadians suffer from Crohn's disease and ulcerative colitis, known collectively as inflammatory bowel disease (IBD). The study's authors represent the NIDDK 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 the United States. The Consortium's member institutions include the University of Toronto, the Universit de Montral, the Cedars-Sinai Medical Center in Los Angeles, the University of Chicago, the Johns Hopkins University, the University of Pittsburgh, and Yale University.

Since 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 Crohn's disease and in healthy controls. The comparison of these SNPs (common genetic variants) between patient and control groups identified multiple SNPs that were strongly as
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Contact: Jodi Salem
416-586-3161
University of Toronto
15-Apr-2007


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