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dc.contributor.author이혜순-
dc.date.accessioned2016-09-23T06:16:58Z-
dc.date.available2016-09-23T06:16:58Z-
dc.date.issued2015-03-
dc.identifier.citationANNALS OF THE RHEUMATIC DISEASES, v. 74, NO 3, Page. 13-20en_US
dc.identifier.issn0003-4967-
dc.identifier.issn1468-2060-
dc.identifier.urihttp://ard.bmj.com/content/74/3/e13-
dc.identifier.urihttp://hdl.handle.net/20.500.11754/23316-
dc.description.abstractObjective A highly polygenic aetiology and high degree of allele-sharing between ancestries have been well elucidated in genetic studies of rheumatoid arthritis. Recently, the high-density genotyping array Immunochip for immune disease loci identified 14 new rheumatoid arthritis risk loci among individuals of European ancestry. Here, we aimed to identify new rheumatoid arthritis risk loci using Korean-specific Immunochip data. Methods We analysed Korean rheumatoid arthritis case-control samples using the Immunochip and genome-wide association studies (GWAS) array to search for new risk alleles of rheumatoid arthritis with anticitrullinated peptide antibodies. To increase power, we performed a meta-analysis of Korean data with previously published European Immunochip and GWAS data for a total sample size of 9299 Korean and 45 790 European case-control samples. Results We identified eight new rheumatoid arthritis susceptibility loci (TNFSF4, LBH, EOMES, ETS1-FLI1, COG6, RAD51B, UBASH3A and SYNGR1) that passed a genome-wide significance threshold (p˂5x10(-8)), with evidence for three independent risk alleles at 1q25/TNFSF4. The risk alleles from the seven new loci except for the TNFSF4 locus (monomorphic in Koreans), together with risk alleles from previously established RA risk loci, exhibited a high correlation of effect sizes between ancestries. Further, we refined the number of single nucleotide polymorphisms (SNPs) that represent potentially causal variants through a trans-ethnic comparison of densely genotyped SNPs. Conclusions This study demonstrates the advantage of dense-mapping and trans-ancestral analysis for identification of potentially causal SNPs. In addition, our findings support the importance of T cells in the pathogenesis and the fact of frequent overlap of risk loci among diverse autoimmune diseases.en_US
dc.description.sponsorshipThis study is supported by grants from the Korea Healthcare technology R&D project of Ministry for Health & Welfare (A121983), NIH grant (AI094377), the Arthritis Research UK grant reference number 17552 and the Manchester Biomedical Research Centre.en_US
dc.language.isoenen_US
dc.publisherBMJ PUBLISHING GROUPen_US
dc.subjectGENOME-WIDE ASSOCIATIONen_US
dc.subjectSYSTEMIC-LUPUS-ERYTHEMATOSUSen_US
dc.subjectPRIMARY BILIARY-CIRRHOSISen_US
dc.subjectSUSCEPTIBILITY LOCIen_US
dc.subjectGENE-EXPRESSIONen_US
dc.subjectMULTIPLE COMMONen_US
dc.subjectCELIAC-DISEASEen_US
dc.titleHigh-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk locien_US
dc.typeArticleen_US
dc.relation.no3-
dc.relation.volume74-
dc.identifier.doi10.1136/annrheumdis-2013-204749-
dc.relation.page13-20-
dc.relation.journalANNALS OF THE RHEUMATIC DISEASES-
dc.contributor.googleauthorKim, Kwangwoo-
dc.contributor.googleauthorBang, So-Young-
dc.contributor.googleauthorLee, Hye-Soon-
dc.contributor.googleauthorCho, Soo-Kyung-
dc.contributor.googleauthorChoi, Chan-Bum-
dc.contributor.googleauthorSung, Yoon-Kyoung-
dc.contributor.googleauthorKim, Tae-Hwan-
dc.contributor.googleauthorJun, Jae-Bum-
dc.contributor.googleauthorYoo, Dae Hyun-
dc.contributor.googleauthorKang, Young Mo-
dc.relation.code2015001191-
dc.sector.campusS-
dc.sector.daehakCOLLEGE OF MEDICINE[S]-
dc.sector.departmentDEPARTMENT OF MEDICINE-
dc.identifier.pidlhsberon-
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COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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