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World J Gastroenterol. Jun 21, 2006; 12(23): 3678-3681
Published online Jun 21, 2006. doi: 10.3748/wjg.v12.i23.3678
OCTNs: Will the real IBD5 gene please stand up?
Mark S Silverberg
Mark S Silverberg, Mount Sinai Hospital IBD Centre, Departments of Medicine and Surgery, University of Toronto, 441-600 University Avenue, Toronto, ON M5G 1X5, Canada
Correspondence to: Mark S Silverberg, MD, PhD, Mount Sinai Hospital IBD Centre 441-600 University Avenue Toronto, Ontario, M5G 1X5, Canada. msilverberg@mtsinai.on.ca
Telephone: +1-416-5868236 Fax: +1-416-5864878
Received: March 2, 2006
Revised: March 28, 2006
Accepted: April 16, 2006
Published online: June 21, 2006
Abstract

Crohn’s disease and ulcerative colitis are inflammatory disorders of the gastrointestinal tract with a substantial heritable component. The IBD5 region on chromosome 5q31 is one of only two loci widely confirmed to be associated with Crohn’s disease in multiple independent cohorts. Although many populations have demonstrated association with IBD5, there remains uncertainty as to the causal variant within the region. A recent report identified polymorphisms in SLC22A4 (OCTN1) and SLC22A5 (OCTN2) as being responsible for the IBD5 association, however, these findings have not been replicated. This review discusses the data evaluating the IBD5 locus and the OCTN genes and their relationship to inflammatory bowel disease. Several other genes, including IRF1 and P4HA2 may be equally as likely to contain the IBD5 causal variant as the OCTN genes.

Keywords: IBD5; Inflammatory bowel disease