The amino acid variants in HLA II molecules explain the major association with adult-onset Still's disease in the Han Chinese population.

Autor: Teng JL; Department of Rheumatology and Immunology, Shanghai Jiao Tong University School of Medicine Affiliated Ruijin Hospital, Shanghai, China., Chen X; Department of Rheumatology and Immunology, Shanghai Jiao Tong University School of Medicine Affiliated Ruijin Hospital, Shanghai, China., Chen J; 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 Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Zeng T; Xinhua Hospital Chongming Branch Affiliated to Shanghai Jiao Tong University School of Medicine, China., He L; 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; Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai, China., Li M; The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China., Luo CN; Department of Rheumatology and Immunology, People's Hospital of Xinjiang Ugyur Autonomous Region, Urumqi, 830001, China., Liu S; Department of Rheumatology and Immunology, First Affiliated Hospital of Kunming Medical University, Kunming, 650032, China., Ding TT; Department of Rheumatology and Immunology, First Affiliated Hospital of Bengbu Medical College, 233000, China., Yimaiti K; Department of Rheumatology and Immunology, People's Hospital of Xinjiang Ugyur Autonomous Region, Urumqi, 830001, China., Li X; 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., Ding Y; The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China., Cheng XB; Department of Rheumatology and Immunology, Shanghai Jiao Tong University School of Medicine Affiliated Ruijin Hospital, Shanghai, China., Zhou J; 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., Ye JN; Department of Rheumatology and Immunology, Shanghai Jiao Tong University School of Medicine Affiliated Ruijin Hospital, Shanghai, China., Ji J; 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., Su YT; Department of Rheumatology and Immunology, Shanghai Jiao Tong University School of Medicine Affiliated Ruijin Hospital, Shanghai, China., Shi H; Department of Rheumatology and Immunology, Shanghai Jiao Tong University School of Medicine Affiliated Ruijin Hospital, Shanghai, China., Sun Y; Department of Rheumatology and Immunology, Shanghai Jiao Tong University School of Medicine Affiliated Ruijin Hospital, Shanghai, China., Gao C; The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China., Hu QY; Department of Rheumatology and Immunology, Shanghai Jiao Tong University School of Medicine Affiliated Ruijin Hospital, Shanghai, China., Chi HH; Department of Rheumatology and Immunology, Shanghai Jiao Tong University School of Medicine Affiliated Ruijin Hospital, Shanghai, China., Yuan X; The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China., Zhou ZC; Department of Rheumatology and Immunology, Shanghai Jiao Tong University School of Medicine Affiliated Ruijin Hospital, Shanghai, China., Wang D; 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., Wang K; 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., Feng D; The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China., Li C; The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China., Sun Y; The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China., Niu Y; The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China., Xu X; The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China., Chen LJ; Department of Rheumatology and Immunology, First Affiliated Hospital of Bengbu Medical College, 233000, China., Xu J; Department of Rheumatology and Immunology, First Affiliated Hospital of Kunming Medical University, Kunming, 650032, China., Wu LJ; Department of Rheumatology and Immunology, People's Hospital of Xinjiang Ugyur Autonomous Region, Urumqi, 830001, China., Zhou Z; 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., Pan D; 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., Niu H; 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 Urology, The Affiliated Hospital of Qingdao University, Qingdao, China; Key Laboratory, Department of Urology and Andrology, The Affiliated Hospital of Qingdao University, Qingdao, China., Yang CD; Department of Rheumatology and Immunology, Shanghai Jiao Tong University School of Medicine Affiliated Ruijin Hospital, Shanghai, China., Yongyong Shi; 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; Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai, China; Institute of Neuropsychiatric Science and Systems Biological Medicine, Shanghai Jiao Tong University, Shanghai, China; Shanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Department of Psychiatry, The First Teaching Hospital of Xinjiang Medical University, Urumqi, China; Changning Mental Health Center, Shanghai, China., Li Z; 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; Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai, China; Institute of Neuropsychiatric Science and Systems Biological Medicine, Shanghai Jiao Tong University, Shanghai, China. Electronic address: lizqsjtu@gmail.com., Liu HL; Department of Rheumatology and Immunology, Shanghai Jiao Tong University School of Medicine Affiliated Ruijin Hospital, Shanghai, China. Electronic address: hong-lei-liu@163.com.
Jazyk: angličtina
Zdroj: Journal of autoimmunity [J Autoimmun] 2021 Jan; Vol. 116, pp. 102562. Date of Electronic Publication: 2020 Nov 06.
DOI: 10.1016/j.jaut.2020.102562
Abstrakt: Adult-onset Still's disease (AOSD) is a rare autoinflammatory disease with systemic involvement, and its pathophysiology remains unclear. Genome-wide association studies (GWAS) in the Chinese population have revealed an association between AOSD and the major histocompatibility complex (MHC) locus; however, causal variants in the MHC remain undetermined. In the present study, we identified independent amino-acid polymorphisms in human leukocyte antigen (HLA) molecules that are associated with Han Chinese patients with AOSD by fine-mapping the MHC locus. Through conditional analyses, we identified position 34 in HLA-DQα1 (p = 1.44 × 10 -14 ) and Asn in HLA-DRβ1 position 37 (p = 5.12 × 10 -11 ) as the major determinants for AOSD. Moreover, we identified the associations for three main HLA class II alleles: HLA-DQB1*06:02 (OR = 2.70, p = 3.02 × 10 -14 ), HLA-DRB1*15:01 (OR = 2.44, p = 3.66 × 10 -13 ), and HLA-DQA1*01:02 (OR = 1.97, p = 1.09 × 10 -9 ). This study reveals the relationship between functional variations in the class II HLA region and AOSD, implicating the MHC locus in the pathogenesis of AOSD.
(Copyright © 2020 Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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