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Association study between OCTN1 functional haplotypes and Crohn's disease in a Korean population

Title
Association study between OCTN1 functional haplotypes and Crohn's disease in a Korean population
Authors
Jung, Eun SukParK, Hyo JinKong, Kyoung AeChoi, Ji HaCheon, Jae Hee
Ewha Authors
최지하공경애
SCOPUS Author ID
최지하scopus; 공경애scopusscopus
Issue Date
2017
Journal Title
KOREAN JOURNAL OF PHYSIOLOGY & PHARMACOLOGY
ISSN
1226-4512JCR Link2093-3827JCR Link
Citation
vol. 21, no. 1, pp. 11 - 17
Keywords
AssociationCrohn's diseaseHaplotypeOCTN1Phenotype
Publisher
KOREAN JOURNAL OF PHYSIOLOGY & PHARMACOLOGY
Indexed
SCIE; SCOPUS; KCI WOS scopus
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 the OCTN1 promoter 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 the OCTN1 promoter play a role in the susceptibility to or clinical course of CD in Koreans. To examine it, the frequencies of the four variants of the OCTN1 promoter 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 with OCTN1 functional promoter variants or haplotypes showing altered promoter activities in in vitro assays. However, OCTN1 functional 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 the OCTN1 functional promoter haplotypes can influence the CD phenotype, although these might not be associated with susceptibility to this disease.
DOI
10.4196/kjpp.2017.21.1.11
Appears in Collections:
의과대학 > 의학과 > Journal papers
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