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Association study between OCTN1 functional haplotypes and Crohn’s disease in a Korean population
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  • Association study between OCTN1 functional haplotypes and Crohn’s disease in a Korean population
저자명
EunSukJung,HyoJinPark,KyoungAeKong,JiHaChoi,JaeHeeCheon
간행물명
The Korean Journal of Physiology & PharmacologyKCI,SCI,SCOPUS
권/호정보
2017년|21권 1호(통권121호)|pp.11-17 (7 pages)
발행정보
대한생리학회-대한약리학회|한국
파일정보
정기간행물|ENG|
PDF텍스트(0.19MB)
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영문초록

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) 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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