Single-nucleotide polymorphisms in SLC22A23 are associated with ulcerative colitis in a Canadian white cohort.

SLC22A23 is an orphan gene in the SLC22 family of organic membrane transporters, and its single-nucleotide polymorphism rs17309827-T was recently nominally associated with intestinal inflammation in a genome-wide association study. Other polymorphisms in the SLC22A23 gene have been associated with diseases with an inflammatory component, and polymorphisms in related genes in the SLC22 family have been repeatedly associated with inflammatory bowel disease (IBD). In a candidate-gene study using a well-phenotyped, highly monitored, Manitoban white cohort, we investigated whether variations in SLC22A23 were associated with intestinal inflammation. Selected genetic variations were genotyped by using fluorescent-based assays or a polymerase chain reaction-restriction fragment length polymorphism analysis in 160 individuals with Crohn disease, 149 individuals with ulcerative colitis, and 142 healthy control subjects to determine genetic associations. Homozygocity for single-nucleotide polymorphisms rs4959235-TT and rs950318-GG was associated with IBD, whereby 6% of patients (18 of 311 cases) carried these genotypes, but they were not seen in healthy controls. Associations reported in this article add to the emerging evidence that SLC22A23 variants could modify IBD risk. However, the biology of the gene and impact of variations on the gene's functions need to be tested to validate a causative role.