Association of DLG5 R30Q variant with inflammatory bowel disease View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2005-07

AUTHORS

Mark J Daly, Alexandra V Pearce, Lisa Farwell, Sheila A Fisher, Anna Latiano, Natalie J Prescott, Alastair Forbes, John Mansfield, Jeremy Sanderson, Diane Langelier, Albert Cohen, Alain Bitton, Gary Wild, Cathryn M Lewis, Vito Annese, Christopher G Mathew, John D Rioux

ABSTRACT

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. More... »

PAGES

835

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201403

DOI

http://dx.doi.org/10.1038/sj.ejhg.5201403

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1023292642

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15841097


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32 schema:description 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.
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