Association of DLG5 R30Q variant with inflammatory bowel disease

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

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72 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)835-9
Number of pages5
JournalEuropean Journal of Human Genetics
Issue number7
Publication statusPublished - Jul 2005


  • Case-Control Studies
  • Colitis, Ulcerative
  • Crohn Disease
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Great Britain
  • Humans
  • Inflammatory Bowel Diseases
  • Membrane Proteins
  • Polymorphism, Single Nucleotide
  • Quebec
  • Tumor Suppressor Proteins

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