Regulatory Variants on the Leukocyte Immunoglobulin-Like Receptor Gene Cluster are Associated with Crohn's Disease and Interact with Regulatory Variants for TAP2
DC Field | Value | Language |
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dc.contributor.author | Kim, Kwangwoo | - |
dc.contributor.author | Oh, Shin Ju | - |
dc.contributor.author | Lee, Junho | - |
dc.contributor.author | Kwon, Ayeong | - |
dc.contributor.author | Yu, Chae-Yeon | - |
dc.contributor.author | Kim, Sangsoo | - |
dc.contributor.author | Choi, Chang Hwan | - |
dc.contributor.author | Kang, Sang-Bum | - |
dc.contributor.author | Kim, Tae Oh | - |
dc.contributor.author | Park, Dong Il | - |
dc.contributor.author | Lee, Chang Kyun | - |
dc.date.accessioned | 2024-03-13T02:00:34Z | - |
dc.date.available | 2024-03-13T02:00:34Z | - |
dc.date.issued | 2024-01 | - |
dc.identifier.issn | 1873-9946 | - |
dc.identifier.issn | 1876-4479 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/72790 | - |
dc.description.abstract | BACKGROUND AND AIMS: Crohn's disease [CD] has a complex polygenic aetiology with high heritability. There is ongoing effort to identify novel variants associated with susceptibility to CD through a genome-wide association study [GWAS] in large Korean populations. METHODS: Genome-wide variant data from 902 Korean patients with CD and 72 179 controls were used to assess the genetic associations in a meta-analysis with previous Korean GWAS results from 1621 patients with CD and 4419 controls. Epistatic interactions between CD-risk variants of interest were tested using a multivariate logistic regression model with an interaction term. RESULTS: We identified two novel genetic associations with the risk of CD near ZBTB38 and within the leukocyte immunoglobulin-like receptor [LILR] gene cluster [p < 5 × 10-8], with highly consistent effect sizes between the two independent Korean cohorts. CD-risk variants in the LILR locus are known quantitative trait loci [QTL] for multiple LILR genes, of which LILRB2 directly interacts with various ligands including MHC class I molecules. The LILR lead variant exhibited a significant epistatic interaction with CD-associated regulatory variants for TAP2 involved in the antigen presentation of MHC class I molecules [p = 4.11 × 10-4], showing higher CD-risk effects of the TAP2 variant in individuals carrying more risk alleles of the LILR lead variant (odds ratio [OR] = 0.941, p = 0.686 in non-carriers; OR = 1.45, p = 2.51 × 10-4 in single-copy carriers; OR = 2.38, p = 2.76 × 10-6 in two-copy carriers). CONCLUSIONS: This study demonstrated that genetic variants at two novel susceptibility loci and the epistatic interaction between variants in LILR and TAP2 loci confer a risk of CD. © The Author(s) 2023. Published by Oxford University Press on behalf of European Crohn’s and Colitis Organisation. All rights reserved. For permissions, please email: journals.permissions@oup.com. | - |
dc.format.extent | 7 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | Oxford University Press | - |
dc.title | Regulatory Variants on the Leukocyte Immunoglobulin-Like Receptor Gene Cluster are Associated with Crohn's Disease and Interact with Regulatory Variants for TAP2 | - |
dc.type | Article | - |
dc.identifier.doi | 10.1093/ecco-jcc/jjad127 | - |
dc.identifier.bibliographicCitation | Journal of Crohn's & colitis, v.18, no.1, pp 47 - 53 | - |
dc.description.isOpenAccess | N | - |
dc.identifier.scopusid | 2-s2.0-85183587967 | - |
dc.citation.endPage | 53 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 47 | - |
dc.citation.title | Journal of Crohn's & colitis | - |
dc.citation.volume | 18 | - |
dc.type.docType | Article | - |
dc.publisher.location | 영국 | - |
dc.subject.keywordAuthor | Crohn’s disease | - |
dc.subject.keywordAuthor | genetic variants | - |
dc.subject.keywordAuthor | GWAS | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
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