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Lookup NU author(s): Dr John Mansfield
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Crohn's disease (CD) and ulcerative colitis (UC) are chronic inflammatory diseases of the gastrointestinal system known as the inflammatory bowel diseases (IBD). Recently, Stoll and colleagues reported a novel finding of genetic variation in the DLG5 gene that is associated with IBD (CD and UC combined). We present here a study of the genetic variation described in that report in two well-powered independent case-control cohorts and one family-based collection, and confirm the proposed association between IBD and the R30Q variant of DLG5 in two of the three studies. We are, however, unable to replicate the other proposed association to the common haplotype described in Stoll et al and suggest that this other finding could conceivably have been partially a statistical fluctuation and partially a result of LD with the replicated R30Q association. This study provides support for the hypothesis that DLG5 constitutes a true IBD risk factor of modest effect. © 2005 Nature Publishing Group. All rights reserved.
Author(s): Daly MJ, Pearce AV, Farwell L, Fisher SA, Latiano A, Prescott NJ, Forbes A, Mansfield J, Sanderson J, Langelier D, Cohen A, Bitton A, Wild G, Lewis CM, Annese V, Mathew CG, Rioux JD
Publication type: Article
Publication status: Published
Journal: European Journal of Human Genetics
Year: 2005
Volume: 13
Issue: 7
Pages: 835-839
Print publication date: 01/07/2005
ISSN (print): 1018-4813
ISSN (electronic): 1476-5438
Publisher: Nature Publishing Group
URL: http://dx.doi.org/10.1038/sj.ejhg.5201403
DOI: 10.1038/sj.ejhg.5201403
PubMed id: 15841097
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