Full metadata record
DC Field | Value | Language |
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dc.contributor.author | 이지수 | - |
dc.date.accessioned | 2020-12-03T16:30:23Z | - |
dc.date.available | 2020-12-03T16:30:23Z | - |
dc.date.issued | 2020 | - |
dc.identifier.issn | 0003-4967 | - |
dc.identifier.other | OAK-28192 | - |
dc.identifier.uri | https://dspace.ewha.ac.kr/handle/2015.oak/255597 | - |
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 p meta <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. © Author(s) (or their employer(s)) 2020. | - |
dc.language | English | - |
dc.publisher | BMJ Publishing Group | - |
dc.subject | arthritis | - |
dc.subject | autoimmune diseases | - |
dc.subject | genetic | - |
dc.subject | polymorphism | - |
dc.subject | rheumatoid | - |
dc.title | Genome-wide association study in a Korean population identifies six novel susceptibility loci for rheumatoid arthritis | - |
dc.type | Article | - |
dc.relation.issue | 11 | - |
dc.relation.volume | 79 | - |
dc.relation.index | SCIE | - |
dc.relation.index | SCOPUS | - |
dc.relation.startpage | 1438 | - |
dc.relation.lastpage | 1445 | - |
dc.relation.journaltitle | Annals of the Rheumatic Diseases | - |
dc.identifier.doi | 10.1136/annrheumdis-2020-217663 | - |
dc.identifier.wosid | WOS:000580698100021 | - |
dc.identifier.scopusid | 2-s2.0-85092944031 | - |
dc.author.google | Kwon Y.-C. | - |
dc.author.google | Lim J. | - |
dc.author.google | Bang S.-Y. | - |
dc.author.google | Ha E. | - |
dc.author.google | Hwang M.Y. | - |
dc.author.google | Yoon K. | - |
dc.author.google | Choe J.-Y. | - |
dc.author.google | Yoo D.-H. | - |
dc.author.google | Lee S.-S. | - |
dc.author.google | Lee J. | - |
dc.author.google | Chung W.T. | - |
dc.author.google | Kim T.-H. | - |
dc.author.google | Sung Y.-K. | - |
dc.author.google | Shim S.-C. | - |
dc.author.google | Choi C.-B. | - |
dc.author.google | Jun J.-B. | - |
dc.author.google | Kang Y.M. | - |
dc.author.google | Shin J.-M. | - |
dc.author.google | Lee Y.-K. | - |
dc.author.google | Cho S.-K. | - |
dc.author.google | Kim B.-J. | - |
dc.author.google | Lee H.-S. | - |
dc.author.google | Kim K. | - |
dc.author.google | Bae S.-C. | - |
dc.contributor.scopusid | 이지수(14424388700) | - |
dc.date.modifydate | 20230201112642 | - |