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

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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

The Affiliated Hospital of Qingdao University & The Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China
Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), The Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China.
Shanghai Key Laboratory of Sleep Disordered Breathing, Shanghai, China.
Institute of Neuropsychiatric Science and Systems Biological Medicine, Shanghai Jiao Tong University, Shanghai, China.
Department of Rheumatology and Immunology, Shanghai Jiao Tong University Medical School Affiliated Ruijin Hospital, Shanghai, China.
Shanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Xinhua Hospital Chongming Branch Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
The Affiliated Hospital of Qingdao University & The Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China.
Department of Rheumatology and Immunology, The People's Hospital of Xinjiang Ugyur Autonomous Region, Urumqi, China.
Department of Rheumatology and Immunology, First Affiliated Hospital of Kunming Medical University, Kunming, China.
Department of Rheumatology and Immunology, First Affiliated Hospital of Bengbu Medical College, Bengbu, China.
Shandong Provincial Key Laboratory of Metabolic Disease, The Affiliated Hospital of Qingdao University, Qingdao, China.
Department of Urology, The Affiliated Hospital of Qingdao University, Qingdao, China.
Key Laboratory, Department of Urology and Andrology, The Affiliated Hospital of Qingdao University, Qingdao, China.
Department of Psychiatry, The First Teaching Hospital of Xinjiang Medical University, Urumqi, China.
Changning Mental Health Center, Shanghai, China.
Department of Rheumatology and Immunology, Shanghai Jiao Tong University Medical School Affiliated Ruijin Hospital, Shanghai, China

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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