OCTNs: will the real IBD5 gene please stand up?
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.
Silverberg
Mark-S
MS
Mount Sinai Hospital IBD Centre, Department of Medicine, Toronto, Ontario, Canada. msilverberg@mtsinai.on.ca
D003093:Colitis, Ulcerative / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D003424:Crohn Disease / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D050856:Interferon Regulatory Factor-1 / Q000235:genetics / Q000502:physiology; D015810:Linkage Disequilibrium; D027701:Organic Cation Transport Proteins / Q000235:genetics* / Q000502:physiology; D010641:Phenotype; D011110:Polymorphism, Genetic; D000074058:Solute Carrier Family 22 Member 5; D027981:Symporters
C494257:IRF1 protein, human; D050856:Interferon Regulatory Factor-1; D027701:Organic Cation Transport Proteins; C109807:SLC22A4 protein, human; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D027981:Symporters