Association of DLG5 R30Q variant with inflammatory bowel disease.
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.
Daly
Mark J
MJ
The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
Pearce
Alexandra V
AV
Farwell
Lisa
L
Fisher
Sheila A
SA
Latiano
Anna
A
Prescott
Natalie J
NJ
Forbes
Alastair
A
Mansfield
John
J
Sanderson
Jeremy
J
Langelier
Diane
D
Cohen
Albert
A
Bitton
Alain
A
Wild
Gary
G
Lewis
Cathryn M
CM
Annese
Vito
V
Mathew
Christopher G
CG
Rioux
John D
JD
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
C114461:DLG5 protein, human; D008565:Membrane Proteins; D025521:Tumor Suppressor Proteins