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Both HLA class I and II regions identified as genome-wide significant susceptibility loci for adult-onset Still's disease in Chinese individuals
Annals of the Rheumatic Diseases ( IF 20.3 ) Pub Date : 2019-08-30 , DOI: 10.1136/annrheumdis-2019-215239
Zhiqiang Li 1, 2, 3, 4 , Hong-Lei Liu 5 , Jianhua Chen 2, 3, 6 , Ting Zeng 7 , Lin He 2, 4 , Meihang Li 8 , Cainan Luo 9 , Shuang Liu 10 , Ting-Ting Ding 11 , Kuerbanjiang Yimaiti 9 , Jialin Teng 5 , Xingwang Li 2 , Yonghe Ding 8 , Xiaobing Cheng 5 , Juan Zhou 2 , Junna Ye 5 , Jue Ji 2 , Yu-Tong Su 5 , Hui Shi 5 , Yue Sun 5 , Chengwen Gao 8 , Qiongyi Hu 5 , Huihui Chi 5 , Xuan Yuan 12 , Zhuochao Zhou 5 , Dong Wang 2 , Ke Wang 2 , Chang-Gui Li 12 , Yuanchao Sun 8 , Yujuan Niu 8 , Lin-Jie Chen 11 , Jian Xu 10 , Lijun Wu 9 , Zhaowei Zhou 2 , Dun Pan 2 , Haitao Niu 1, 13, 14 , Yongyong Shi 1, 2, 3, 4, 6, 15, 16 , Chengde Yang 17
Affiliation  

Adult-onset Still's disease (AOSD) is a rare autoinflammatory condition with unclear aetiology and highly heterogeneous manifestations, such as spiking fever, skin rash and arthralgia (or arthritis).1 2 AOSD is usually the result of both genetic and environmental factors. However, only a few genetic loci have been associated with AOSD, and none of them have reached the threshold for genome-wide significance (GWS) of p<5×10−8.2 3 For example, HLA-DRB1 was strongly associated with AOSD in previous studies (the p value for the most significant association was 8.60×10−6).3 HLA-DRB1 also influences the risk of systemic juvenile idiopathic arthritis (JIA),4 which presents similarly to AOSD but differs in age of onset. In addition, functional variations in periodic fever syndrome genes have been identified in some AOSD patients (Bonferroni corrected p values ranged from 2.34×10−3 to 2.40×10−4).5 In this study, for the first time, we conducted a genome-wide association study (GWAS) to systematically screen genetic factors influencing susceptibility to AOSD (online supplementary text). Principal component analysis was adopted to evaluate population stratification between cases and controls and to detect outliers for removal (online supplementary figure S1). After quality control and imputation, a total of 3 547 931 variants in 264 AOSD cases and 2420 controls (discovery: 247 cases vs 2163 controls; replication: 17 cases vs 257 controls; online supplementary text and table S1) from China …
更新日期:2019-08-30
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