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X chromosome-wide association study identifies a susceptibility locus for inflammatory bowel disease in Koreans
DC Field | Value | Language |
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dc.contributor.author | Lee, Ho-Su | - |
dc.contributor.author | Oh, Hyunjung | - |
dc.contributor.author | Yang, Suk-Kyun | - |
dc.contributor.author | Baek, Jiwon | - |
dc.contributor.author | Jung, Seulgi | - |
dc.contributor.author | Hong, Myunghee | - |
dc.contributor.author | Kim, Kyung Mo | - |
dc.contributor.author | Shin, Hyoung Doo | - |
dc.contributor.author | Kim, Kyung-Jo | - |
dc.contributor.author | Park, Sang Hyoung | - |
dc.contributor.author | Ye, Byong Duk | - |
dc.contributor.author | Han, Buhm | - |
dc.contributor.author | Song, Kyuyoung | - |
dc.date.accessioned | 2023-04-25T07:32:59Z | - |
dc.date.available | 2023-04-25T07:32:59Z | - |
dc.date.created | 2018-11-26 | - |
dc.date.created | 2018-11-26 | - |
dc.date.issued | 2017-07 | - |
dc.identifier.citation | Journal of Crohn's and Colitis, Vol.11 No.7, pp.820-830 | - |
dc.identifier.issn | 1873-9946 | - |
dc.identifier.uri | https://hdl.handle.net/10371/191531 | - |
dc.description.abstract | © 2017 European Crohn's and Colitis Organisation (ECCO). Published by Oxford University Press. All rights reserved. Background and Aims: Genome-wide association studies of inflammatory bowel disease identified > 200 susceptibility loci only in autosomes. This study aimed to identify inflammatory bowel disease susceptibility loci on the X chromosome. Methods: We performed an X chromosome-wide association study in Korean patients with inflammatory bowel disease. We analysed X chromosome data from our recent genome-wide association studies, including 1505 cases [922 Crohn's disease and 583 ulcerative colitis] and 4041 controls during the discovery phase, followed by replication in additional 1989 cases [993 Crohn's disease, 996 ulcerative colitis] and 3491 controls. Sex-related differential effects of single nucleotide polymorphisms on disease were also evaluated. Results: We confirmed a significant association of a previously reported inflammatory bowel disease susceptibility locus at chromosome Xq26.3 [CD40LG-ARHGEF6; odds ratio, 1.22; 95% confidence interval, 1.16-1.28; combined p = 3.79 × 10-15]. This locus accounted for 0.18% and 0.12% of genetic variance in Crohn's disease and ulcerative colitis, respectively, and increased the total autosomal chromosome genetic variance from 6.65% to 6.83% and from 5.47% to 5.59% for Crohn's disease and ulcerative colitis risk, respectively, in the Korean population. Sex-stratified analyses did not reveal sex-related differences in effect sizes. Conclusions: We confirmed the association of rs2427870 at the CD40LG-ARHGEF6 locus with an inflammatory bowel disease through an X chromosome-wide association study in a Korean population. Our data suggest that the CD40LG-ARHGEF6 locus on the X chromosome might play a role in inflammatory bowel disease pathogenesis in the Korean population. | - |
dc.language | 영어 | - |
dc.publisher | Oxford University Press | - |
dc.title | X chromosome-wide association study identifies a susceptibility locus for inflammatory bowel disease in Koreans | - |
dc.type | Article | - |
dc.identifier.doi | 10.1093/ecco-jcc/jjx023 | - |
dc.citation.journaltitle | Journal of Crohn's and Colitis | - |
dc.identifier.wosid | 000404247600007 | - |
dc.identifier.scopusid | 2-s2.0-85028982082 | - |
dc.citation.endpage | 830 | - |
dc.citation.number | 7 | - |
dc.citation.startpage | 820 | - |
dc.citation.volume | 11 | - |
dc.description.isOpenAccess | Y | - |
dc.contributor.affiliatedAuthor | Han, Buhm | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.subject.keywordPlus | HOSPITAL-BASED COHORT | - |
dc.subject.keywordPlus | LONG-TERM PROGNOSIS | - |
dc.subject.keywordPlus | GENETIC SUSCEPTIBILITY | - |
dc.subject.keywordPlus | CROHNS-DISEASE | - |
dc.subject.keywordPlus | ALPHA-PIX | - |
dc.subject.keywordPlus | ULCERATIVE-COLITIS | - |
dc.subject.keywordPlus | TEMPORAL-CHANGE | - |
dc.subject.keywordPlus | EXPRESSION | - |
dc.subject.keywordPlus | EPIDEMIOLOGY | - |
dc.subject.keywordPlus | INACTIVATION | - |
dc.subject.keywordAuthor | CD40LG-ARHGEF6 | - |
dc.subject.keywordAuthor | inflammatory bowel disease | - |
dc.subject.keywordAuthor | X chromosome | - |
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