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

Hyo Jin Park, Eun Suk Jung, Kyoung Ae Kong, Eun Mi Park, Jae Hee Cheon, Ji Ha Choi

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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.

Original languageEnglish
Article number22887
JournalScientific Reports
StatePublished - 11 Mar 2016

Bibliographical note

Funding Information:
This work was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Science, ICT & Future Planning [2010-0027945 and 2013R1A2A2A01067123] and grants from the National Project for Personalized Genomic Medicine [A111218-PG03] and the Korean Health Technology R&D Project [A120176], Ministry for Health & Welfare, Republic of Korea.


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