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Crohn’s disease (CD) is a chronic inflammatory bowel disease and a genetic variant in the  OCTN2 , g.-207G > C is significantly associated with CD susceptibility. This study was aimed to identify novel  OCTN2  functional promoter variants and their roles in transcriptional regulation using various  in vitro  assays. In addition, we investigated the association between  OCTN2  genotypes and CD through genetic analysis using DNA samples from 193 patients with CD and 281 healthy controls. Among the three major promoter haplotypes of  OCTN2  identified, one haplotype, H3, showed a significant decrease in promoter activity: two polymorphisms in H3 were associated with a significant reduction in promoter activity. In particular, we found that the reduced transcriptional activity of those two polymorphisms results from a reduction in the binding affinity of the activators, NF-E2 and YY1, to the  OCTN2  promoter. The functional haplotype of the  OCTN2  promoter was associated with clinical course of CD such as the disease behavior and need for surgery. However, genetic variants or haplotypes of  OCTN2  did not affect the susceptibility to CD. Our results suggest that a common promoter haplotype of  OCTN2  regulates the transcriptional rate of  OCTN2  and influences the clinical course of CD.

Identification of OCTN2 variants and their association with phenotypes of Crohn’s disease in a Korean population