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Cited 3 times in

Identification of genetic susceptibility loci for intestinal Beh?et’s disease

DC FieldValueLanguage
dc.contributor.author천재희-
dc.contributor.author김도영-
dc.contributor.author김승원-
dc.contributor.author김원호-
dc.contributor.author김태일-
dc.contributor.author이현정-
dc.date.accessioned2017-11-01T08:33:08Z-
dc.date.available2017-11-01T08:33:08Z-
dc.date.issued2017-
dc.identifier.issn2045-2322-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/153366-
dc.description.abstractSeveral recent genome-wide association studies (GWAS) identified susceptibility loci/genes for Behçet's disease (BD). However, no study has specifically investigated the genetic susceptibility loci associated with intestinal involvement in BD. We aimed to identify distinctive genetic susceptibility loci/genes associated with intestinal involvement in BD and determine their roles in intestinal inflammation as well as their interactions with genes involved in inflammatory bowel disease (IBD). GWAS and validation studies showed intestinal BD-specific associations with an NAALADL2 gene locus (rs3914501, P = 3.8 × 10-4) and a YIPF7 gene locus (rs6838327, P = 3.5 × 10-4). Validation, haplotype, and pathway analyses showed distinct genetic architectures between intestinal BD and BD without intestinal involvement. Furthermore, network analysis revealed shared pathogenic pathways between intestinal BD and IBD. Gene functional analyses indicated that down-regulation of NAALADL2 and YIPF7 expression was associated with exacerbating intestinal inflammatory responses both in vitro and in vivo. Our results provide new insights into intestinal BD-specific genetic variations, which represents a distinct pathway from BD without intestinal involvement. Functional consequences of the intestinal BD-specific NAALADL2 and YIPF7 expression patterns proved a suggestive association with intestinal inflammation risk, which warrants further validation.-
dc.description.statementOfResponsibilityopen-
dc.formatapplication/pdf-
dc.languageEnglish-
dc.publisherNature Publishing Group-
dc.relation.isPartOfScientific Reports-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleIdentification of genetic susceptibility loci for intestinal Beh?et’s disease-
dc.typeArticle-
dc.publisher.locationEngland-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Internal Medicine-
dc.contributor.googleauthorSeung Won Kim-
dc.contributor.googleauthorYoon Suk Jung-
dc.contributor.googleauthorJae Bum Ahn-
dc.contributor.googleauthorEun-Soon Shin-
dc.contributor.googleauthorHui Won Jang-
dc.contributor.googleauthorHyun Jung Lee-
dc.contributor.googleauthorTae Il Kim-
dc.contributor.googleauthorDo Young Kim-
dc.contributor.googleauthorDongsik Bang-
dc.contributor.googleauthorWon Ho Kim-
dc.contributor.googleauthorJae Hee Cheon-
dc.identifier.doi10.1038/srep39850-
dc.contributor.localIdA00384-
dc.contributor.localIdA00656-
dc.contributor.localIdA00774-
dc.contributor.localIdA01079-
dc.contributor.localIdA03295-
dc.contributor.localIdA04030-
dc.relation.journalcodeJ02646-
dc.identifier.pmid28045058-
dc.contributor.alternativeNameCheon, Jae Hee-
dc.contributor.alternativeNameKim, Do Young-
dc.contributor.alternativeNameKim, Seung Won-
dc.contributor.alternativeNameKim, Won Ho-
dc.contributor.alternativeNameKim, Tae Il-
dc.contributor.alternativeNameLee, Hyun Jung-
dc.contributor.affiliatedAuthorKim, Do Young-
dc.contributor.affiliatedAuthorKim, Seung Won-
dc.contributor.affiliatedAuthorKim, Won Ho-
dc.contributor.affiliatedAuthorKim, Tae Il-
dc.contributor.affiliatedAuthorLee, Hyun Jung-
dc.contributor.affiliatedAuthorCheon, Jae Hee-
dc.citation.titleScientific Reports-
dc.citation.volume7-
dc.citation.startPage39850-
dc.identifier.bibliographicCitationScientific Reports, Vol.7 : 39850, 2017-
dc.date.modified2017-11-01-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > BioMedical Science Institute (의생명과학부) > 1. Journal Papers

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