title: Association of DLG5 R30Q variant with inflammatory bowel disease.
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.
authors.affiliation: The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Daly
authors.forename: Alexandra V
authors.initials: AV
authors.lastname: Pearce
authors.forename: Lisa
authors.initials: L
authors.lastname: Farwell
authors.forename: Sheila A
authors.initials: SA
authors.lastname: Fisher
authors.forename: Anna
authors.initials: A
authors.lastname: Latiano
authors.forename: Natalie J
authors.initials: NJ
authors.lastname: Prescott
authors.forename: Alastair
authors.initials: A
authors.lastname: Forbes
authors.forename: John
authors.initials: J
authors.lastname: Mansfield
authors.forename: Jeremy
authors.initials: J
authors.lastname: Sanderson
authors.forename: Diane
authors.initials: D
authors.lastname: Langelier
authors.forename: Albert
authors.initials: A
authors.lastname: Cohen
authors.forename: Alain
authors.initials: A
authors.lastname: Bitton
authors.forename: Gary
authors.initials: G
authors.lastname: Wild
authors.forename: Cathryn M
authors.initials: CM
authors.lastname: Lewis
authors.forename: Vito
authors.initials: V
authors.lastname: Annese
authors.forename: Christopher G
authors.initials: CG
authors.lastname: Mathew
authors.forename: John D
authors.initials: JD
authors.lastname: Rioux
mesh_terms: D016022:Case-Control Studies; D003093:Colitis, Ulcerative / Q000235:genetics; D003424:Crohn Disease / Q000235:genetics; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011792:Quebec; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D006113:United Kingdom
chemical_list: C114461:DLG5 protein, human; D008565:Membrane Proteins; D025521:Tumor Suppressor Proteins