Genome-wide association study in a Korean population identifies six novel susceptibility loci for rheumatoid arthritis
DC Field | Value | Language |
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dc.contributor.author | Kwon, Young-Chang | - |
dc.contributor.author | Lim, Jiwoo | - |
dc.contributor.author | Bang, So-Young | - |
dc.contributor.author | Ha, Eunji | - |
dc.contributor.author | Hwang, Mi Yeong | - |
dc.contributor.author | Yoon, Kyungheon | - |
dc.contributor.author | Choe, Jung-Yoon | - |
dc.contributor.author | Yoo, Dae-Hyun | - |
dc.contributor.author | Lee, Shin-Seok | - |
dc.contributor.author | Lee, Jisoo | - |
dc.contributor.author | Chung, Won Tae | - |
dc.contributor.author | Kim, Tae-Hwan | - |
dc.contributor.author | Sung, Yoon-Kyoung | - |
dc.contributor.author | Shim, Seung-Cheol | - |
dc.contributor.author | Choi, Chan-Bum | - |
dc.contributor.author | Jun, Jae-Bum | - |
dc.contributor.author | Kang, Young Mo | - |
dc.contributor.author | Shin, Jung-Min | - |
dc.contributor.author | Lee, Yeon-Kyung | - |
dc.contributor.author | Cho, Soo-Kyung | - |
dc.contributor.author | Kim, Bong-Jo | - |
dc.contributor.author | Lee, Hye-Soon | - |
dc.contributor.author | Kim, Kwangwoo | - |
dc.contributor.author | Bae, Sang-Cheol | - |
dc.date.accessioned | 2021-08-02T08:51:02Z | - |
dc.date.available | 2021-08-02T08:51:02Z | - |
dc.date.created | 2021-05-12 | - |
dc.date.issued | 2020-11 | - |
dc.identifier.issn | 0003-4967 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/8825 | - |
dc.description.abstract | Objective Genome-wide association studies (GWAS) in rheumatoid arthritis (RA) have discovered over 100 RA loci, explaining patient-relevant RA pathogenesis but showing a large fraction of missing heritability. As a continuous effort, we conducted GWAS in a large Korean RA case–control population. Methods We newly generated genome-wide variant data in two independent Korean cohorts comprising 4068 RA cases and 36 487 controls, followed by a whole-genome imputation and a meta-analysis of the disease association results in the two cohorts. By integrating publicly available omics data with the GWAS results, a series of bioinformatic analyses were conducted to prioritise the RA-risk genes in RA loci and to dissect biological mechanisms underlying disease associations. Results We identified six new RA-risk loci (SLAMF6, CXCL13, SWAP70, NFKBIA, ZFP36L1 and LINC00158) with pmeta<5×10−8 and consistent disease effect sizes in the two cohorts. A total of 122 genes were prioritised from the 6 novel and 13 replicated RA loci based on physical distance, regulatory variants and chromatin interaction. Bioinformatics analyses highlighted potentially RA-relevant tissues (including immune tissues, lung and small intestine) with tissue-specific expression of RA-associated genes and suggested the immune-related gene sets (such as CD40 pathway, IL-21-mediated pathway and citrullination) and the risk-allele sharing with other diseases. Conclusion This study identified six new RA-associated loci that contributed to better understanding of the genetic aetiology and biology in RA. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | BMJ PUBLISHING GROUP | - |
dc.title | Genome-wide association study in a Korean population identifies six novel susceptibility loci for rheumatoid arthritis | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Bang, So-Young | - |
dc.contributor.affiliatedAuthor | Yoo, Dae-Hyun | - |
dc.contributor.affiliatedAuthor | Kim, Tae-Hwan | - |
dc.contributor.affiliatedAuthor | Choi, Chan-Bum | - |
dc.contributor.affiliatedAuthor | Jun, Jae-Bum | - |
dc.contributor.affiliatedAuthor | Cho, Soo-Kyung | - |
dc.contributor.affiliatedAuthor | Bae, Sang-Cheol | - |
dc.identifier.doi | 10.1136/annrheumdis-2020-217663 | - |
dc.identifier.scopusid | 2-s2.0-85092944031 | - |
dc.identifier.wosid | 000580698100021 | - |
dc.identifier.bibliographicCitation | ANNALS OF THE RHEUMATIC DISEASES, v.79, no.11, pp.1438 - 1445 | - |
dc.relation.isPartOf | ANNALS OF THE RHEUMATIC DISEASES | - |
dc.citation.title | ANNALS OF THE RHEUMATIC DISEASES | - |
dc.citation.volume | 79 | - |
dc.citation.number | 11 | - |
dc.citation.startPage | 1438 | - |
dc.citation.endPage | 1445 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Rheumatology | - |
dc.relation.journalWebOfScienceCategory | Rheumatology | - |
dc.subject.keywordPlus | GERMINAL CENTER | - |
dc.subject.keywordPlus | VARIANTS | - |
dc.subject.keywordPlus | JAPANESE | - |
dc.subject.keywordPlus | CELLS | - |
dc.subject.keywordPlus | CONSORTIUM | - |
dc.subject.keywordPlus | ENRICHMENT | - |
dc.subject.keywordPlus | EXPRESSION | - |
dc.subject.keywordPlus | FEATURES | - |
dc.subject.keywordPlus | SMOKING | - |
dc.subject.keywordPlus | SLAMF6 | - |
dc.subject.keywordAuthor | arthritis | - |
dc.subject.keywordAuthor | autoimmune diseases | - |
dc.subject.keywordAuthor | genetic | - |
dc.subject.keywordAuthor | polymorphism | - |
dc.subject.keywordAuthor | rheumatoid | - |
dc.identifier.url | https://ard.bmj.com/content/79/11/1438 | - |
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