PMID- 33168359
OWN - NLM
STAT- MEDLINE
DCOM- 20211126
LR  - 20221207
IS  - 1095-9157 (Electronic)
IS  - 0896-8411 (Linking)
VI  - 116
DP  - 2021 Jan
TI  - The amino acid variants in HLA II molecules explain the major association with 
      adult-onset Still's disease in the Han Chinese population.
PG  - 102562
LID - S0896-8411(20)30191-8 [pii]
LID - 10.1016/j.jaut.2020.102562 [doi]
AB  - 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-DQalpha1 (p = 1.44 x 10(-14)) and Asn in HLA-DRbeta1 position 37 
      (p = 5.12 x 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 x 10(-14)), HLA-DRB1*15:01 (OR = 2.44, p = 3.66 x 10(-13)), and 
      HLA-DQA1*01:02 (OR = 1.97, p = 1.09 x 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.
CI  - Copyright (c) 2020 Elsevier Ltd. All rights reserved.
FAU - Teng, Jia-Lin
AU  - Teng JL
AD  - Department of Rheumatology and Immunology, Shanghai Jiao Tong University School 
      of Medicine Affiliated Ruijin Hospital, Shanghai, China.
FAU - Chen, Xia
AU  - Chen X
AD  - Department of Rheumatology and Immunology, Shanghai Jiao Tong University School 
      of Medicine Affiliated Ruijin Hospital, Shanghai, China.
FAU - Chen, Jianhua
AU  - Chen J
AD  - 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.
FAU - Zeng, Ting
AU  - Zeng T
AD  - Xinhua Hospital Chongming Branch Affiliated to Shanghai Jiao Tong University 
      School of Medicine, China.
FAU - He, Lin
AU  - He L
AD  - 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.
FAU - Li, Meihang
AU  - Li M
AD  - The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute 
      of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao 
      University, Qingdao, China.
FAU - Luo, Cai-Nan
AU  - Luo CN
AD  - Department of Rheumatology and Immunology, People's Hospital of Xinjiang Ugyur 
      Autonomous Region, Urumqi, 830001, China.
FAU - Liu, Shuang
AU  - Liu S
AD  - Department of Rheumatology and Immunology, First Affiliated Hospital of Kunming 
      Medical University, Kunming, 650032, China.
FAU - Ding, Ting-Ting
AU  - Ding TT
AD  - Department of Rheumatology and Immunology, First Affiliated Hospital of Bengbu 
      Medical College, 233000, China.
FAU - Yimaiti, Kuerbanjiang
AU  - Yimaiti K
AD  - Department of Rheumatology and Immunology, People's Hospital of Xinjiang Ugyur 
      Autonomous Region, Urumqi, 830001, China.
FAU - Li, Xingwang
AU  - Li X
AD  - 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.
FAU - Ding, Yonghe
AU  - Ding Y
AD  - The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute 
      of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao 
      University, Qingdao, China.
FAU - Cheng, Xiao-Bing
AU  - Cheng XB
AD  - Department of Rheumatology and Immunology, Shanghai Jiao Tong University School 
      of Medicine Affiliated Ruijin Hospital, Shanghai, China.
FAU - Zhou, Juan
AU  - Zhou J
AD  - 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.
FAU - Ye, Jun-Na
AU  - Ye JN
AD  - Department of Rheumatology and Immunology, Shanghai Jiao Tong University School 
      of Medicine Affiliated Ruijin Hospital, Shanghai, China.
FAU - Ji, Jue
AU  - Ji J
AD  - 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.
FAU - Su, Yu-Tong
AU  - Su YT
AD  - Department of Rheumatology and Immunology, Shanghai Jiao Tong University School 
      of Medicine Affiliated Ruijin Hospital, Shanghai, China.
FAU - Shi, Hui
AU  - Shi H
AD  - Department of Rheumatology and Immunology, Shanghai Jiao Tong University School 
      of Medicine Affiliated Ruijin Hospital, Shanghai, China.
FAU - Sun, Yue
AU  - Sun Y
AD  - Department of Rheumatology and Immunology, Shanghai Jiao Tong University School 
      of Medicine Affiliated Ruijin Hospital, Shanghai, China.
FAU - Gao, Chengwen
AU  - Gao C
AD  - The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute 
      of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao 
      University, Qingdao, China.
FAU - Hu, Qiong-Yi
AU  - Hu QY
AD  - Department of Rheumatology and Immunology, Shanghai Jiao Tong University School 
      of Medicine Affiliated Ruijin Hospital, Shanghai, China.
FAU - Chi, Hui-Hui
AU  - Chi HH
AD  - Department of Rheumatology and Immunology, Shanghai Jiao Tong University School 
      of Medicine Affiliated Ruijin Hospital, Shanghai, China.
FAU - Yuan, Xuan
AU  - Yuan X
AD  - The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute 
      of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao 
      University, Qingdao, China.
FAU - Zhou, Zhuo-Chao
AU  - Zhou ZC
AD  - Department of Rheumatology and Immunology, Shanghai Jiao Tong University School 
      of Medicine Affiliated Ruijin Hospital, Shanghai, China.
FAU - Wang, Dong
AU  - Wang D
AD  - 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.
FAU - Wang, Ke
AU  - Wang K
AD  - 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.
FAU - Feng, Dong
AU  - Feng D
AD  - The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute 
      of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao 
      University, Qingdao, China.
FAU - Li, Changgui
AU  - Li C
AD  - The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute 
      of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao 
      University, Qingdao, China.
FAU - Sun, Yuanchao
AU  - Sun Y
AD  - The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute 
      of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao 
      University, Qingdao, China.
FAU - Niu, Yujuan
AU  - Niu Y
AD  - The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute 
      of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao 
      University, Qingdao, China.
FAU - Xu, Xiaolei
AU  - Xu X
AD  - The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute 
      of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao 
      University, Qingdao, China.
FAU - Chen, Lin-Jie
AU  - Chen LJ
AD  - Department of Rheumatology and Immunology, First Affiliated Hospital of Bengbu 
      Medical College, 233000, China.
FAU - Xu, Jian
AU  - Xu J
AD  - Department of Rheumatology and Immunology, First Affiliated Hospital of Kunming 
      Medical University, Kunming, 650032, China.
FAU - Wu, Li-Jun
AU  - Wu LJ
AD  - Department of Rheumatology and Immunology, People's Hospital of Xinjiang Ugyur 
      Autonomous Region, Urumqi, 830001, China.
FAU - Zhou, Zhaowei
AU  - Zhou Z
AD  - 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.
FAU - Pan, Dun
AU  - Pan D
AD  - 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.
FAU - Niu, Haitao
AU  - Niu H
AD  - 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.
FAU - Yang, Cheng-de
AU  - Yang CD
AD  - Department of Rheumatology and Immunology, Shanghai Jiao Tong University School 
      of Medicine Affiliated Ruijin Hospital, Shanghai, China.
FAU - Yongyong Shi
AU  - Yongyong Shi
AD  - 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.
FAU - Li, Zhiqiang
AU  - Li Z
AD  - 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.
FAU - Liu, Hong-Lei
AU  - Liu HL
AD  - Department of Rheumatology and Immunology, Shanghai Jiao Tong University School 
      of Medicine Affiliated Ruijin Hospital, Shanghai, China. Electronic address: 
      hong-lei-liu@163.com.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20201106
PL  - England
TA  - J Autoimmun
JT  - Journal of autoimmunity
JID - 8812164
RN  - 0 (Amino Acids)
RN  - 0 (HLA-DQ alpha-Chains)
RN  - 0 (HLA-DQA1 antigen)
RN  - 0 (HLA-DRB1 Chains)
SB  - IM
MH  - Adult
MH  - Alleles
MH  - Amino Acids/*genetics
MH  - Asian People/genetics
MH  - China
MH  - Gene Frequency
MH  - Genetic Predisposition to Disease/ethnology/*genetics
MH  - Genome-Wide Association Study/methods
MH  - Genotype
MH  - HLA-DQ alpha-Chains/chemistry/*genetics
MH  - HLA-DRB1 Chains/chemistry/*genetics
MH  - Haplotypes
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Models, Molecular
MH  - *Polymorphism, Single Nucleotide
MH  - Protein Conformation
MH  - Still's Disease, Adult-Onset/ethnology/*genetics
OTO - NOTNLM
OT  - Adult-onset still's disease
OT  - Genome-wide association studies
OT  - Imputation
OT  - MHC
OT  - Single nucleotide polymorphism
EDAT- 2020/11/11 06:00
MHDA- 2021/11/27 06:00
CRDT- 2020/11/10 05:36
PHST- 2020/07/19 00:00 [received]
PHST- 2020/10/27 00:00 [revised]
PHST- 2020/10/27 00:00 [accepted]
PHST- 2020/11/11 06:00 [pubmed]
PHST- 2021/11/27 06:00 [medline]
PHST- 2020/11/10 05:36 [entrez]
AID - S0896-8411(20)30191-8 [pii]
AID - 10.1016/j.jaut.2020.102562 [doi]
PST - ppublish
SO  - J Autoimmun. 2021 Jan;116:102562. doi: 10.1016/j.jaut.2020.102562. Epub 2020 Nov 
      6.