Association study between OCTN1 functional haplotypes and Crohns disease in a Korean population

Eun Suk Jung, Hyo Jin Park, Kyoung Ae Kong, Ji Ha Choi, JaeHee Cheon

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Crohns 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) nonsynonymous 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.

Original languageEnglish
Pages (from-to)11-17
Number of pages7
JournalKorean Journal of Physiology and Pharmacology
Volume21
Issue number1
DOIs
Publication statusPublished - 2017 Jan 1

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Organic Cation Transporter 1
Carnitine
Crohn Disease
Haplotypes
Population
Disease Susceptibility
Genetic Predisposition to Disease
Inflammatory Bowel Diseases
Genetic Promoter Regions

All Science Journal Classification (ASJC) codes

  • Physiology
  • Pharmacology

Cite this

Jung, Eun Suk ; Park, Hyo Jin ; Kong, Kyoung Ae ; Choi, Ji Ha ; Cheon, JaeHee. / Association study between OCTN1 functional haplotypes and Crohns disease in a Korean population. In: Korean Journal of Physiology and Pharmacology. 2017 ; Vol. 21, No. 1. pp. 11-17.
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abstract = "Crohns 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) nonsynonymous 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.",
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Association study between OCTN1 functional haplotypes and Crohns disease in a Korean population. / Jung, Eun Suk; Park, Hyo Jin; Kong, Kyoung Ae; Choi, Ji Ha; Cheon, JaeHee.

In: Korean Journal of Physiology and Pharmacology, Vol. 21, No. 1, 01.01.2017, p. 11-17.

Research output: Contribution to journalArticle

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