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Scientists Find Major Susceptibility Gene For Crohn s Disease
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Scientists Find Major Susceptibility Gene For Crohn's Disease
" 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 Université de Montréal, 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 genome - all 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 associated with Crohn's disease. These findings were then tested in two additional sets of patients and healthy controls in order to confirm their results. "

" According to the study co-author, Dr. Mark Silverberg, Assistant Professor of Medicine and Surgery at the University of Toronto and Staff Gastroenterologist at Mount Sinai Hospital in Toronto, the findings highlight numerous biological pathways not previously thought to play a role in Crohn's disease. "The identification of the PHOX2B gene in this study, for example, may implicate a role for neuroendocrine cells of the intestinal epithelium as having a role to play in Crohn's disease. In addition, the identification of the NCF4 gene indicates that altered reactive oxygen species (ROS) production, important in the generation of an effective anti-microbial response, may lead to increased risk to developing Crohn's disease." "

" The fact that the authors
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