title: Association study betweenOCTN1functional haplotypes and Crohn's disease in a Korean population.
abstract: Crohn's disease (CD) is a chronic inflammatory bowel disease with multifactorial causes including environmental and genetic factors. Several studies have demonstrated that the organic cation/carnitine transporter 1 (OCTN1) non-synonymous variant L503F is associated with susceptibility to CD. However, it was reported that L503F is absent in Asian populations. Previously, we identified and functionally characterized genetic variants of theOCTN1promoter region in Koreans. In that study, four variants demonstrated significant changes in promoter activity. In the present study, we determined whether four functional variants of theOCTN1promoter play a role in the susceptibility to or clinical course of CD in Koreans. To examine it, the frequencies of the four variants of theOCTN1promoter were determined by genotyping using DNA samples from 194 patients with CD and 287 healthy controls. Then, associations between genetic variants and the susceptibility to CD or clinical course of CD were evaluated. We found that susceptibility to CD was not associated withOCTN1functional promoter variants or haplotypes showing altered promoter activities inin vitroassays. However,OCTN1functional promoter haplotypes showing decreased promoter activities were significantly associated with a penetrating behavior in CD patients (HR=2.428, p=0.009). Our results suggest that theOCTN1functional promoter haplotypes can influence the CD phenotype, although these might not be associated with susceptibility to this disease.
authors.affiliation: Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul 03722, Korea.; Department of Internal Medicine and Institute of Gastroenterology, Yonsei University College of Medicine, Seoul 03722, Korea.
authors.forename: Eun Suk
authors.initials: ES
authors.lastname: Jung
authors.affiliation: Department of Pharmacology, Tissue Injury Defense Research Center, School of Medicine, Ewha Womans University, Seoul 07985, Korea.
authors.forename: Hyo Jin
authors.initials: HJ
authors.lastname: Park
authors.affiliation: Clinical Trial Center, Ewha Womans University Medical Center, Seoul 07985, Korea.
authors.forename: Kyoung Ae
authors.initials: KA
authors.lastname: Kong
authors.affiliation: Department of Pharmacology, Tissue Injury Defense Research Center, School of Medicine, Ewha Womans University, Seoul 07985, Korea.
authors.forename: Ji Ha
authors.initials: JH
authors.lastname: Choi
authors.affiliation: Department of Internal Medicine and Institute of Gastroenterology, Yonsei University College of Medicine, Seoul 03722, Korea.
authors.forename: Jae Hee
authors.initials: JH
authors.lastname: Cheon
keywords: Association; Crohn's disease; Haplotype; OCTN1; Phenotype