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Association of DLG5 R30Q variant with inflammatory bowel disease

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.

Publication metadata

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


DOI: 10.1038/sj.ejhg.5201403

PubMed id: 15841097


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