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

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收录情况： ◇ SCIE

作者：
Teng, J.-L[a] ; Chen, X[a] ; Chen, J[c,f] ; Zeng, T[g] ; He, L[c,d] ; Li, M[b] ; Luo, C.-N[j] ; Liu, S[k] ; Ding, T.-T[l] ; Yimaiti, K[j] ; Li, X[c] ; Ding, Y[b] ; Cheng, X.-B[a] ; Zhou, J[c] ; Ye, J.-N[a] ; Ji, J[c] ; Su, Y.-T[a] ; Shi, H[a] ; Sun, Y[a] ; Gao, C[b] ; Hu, Q.-Y[a] ; Chi, H.-H[a] ; Yuan, X[b] ; Zhou, Z.-C[a] ; Wang, D[c] ; Wang, K[c] ; Feng, D[b] ; Li, C[b] ; Sun, Y[b] ; Niu, Y[b] ; Xu, X[b] ; Chen, L.-J[l] ; Xu, J[k] ; Wu, L.-J[j] ; Zhou, Z[c] ; Pan, D[c] ; Niu, H[b,m,n] ; Yang, C.-D[a] ; Yongyong Shi[b,c,d,e,f,h,i] ; Li, Z[b,c,d,e] ; Liu, H.-L[a] ;
机构： [a]Department of Rheumatology and Immunology, Shanghai Jiao Tong University School of Medicine Affiliated Ruijin Hospital, Shanghai, China [b]The Affiliated Hospital of Qingdao University & the Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China [c]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 [d]Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai, China [e]Institute of Neuropsychiatric Science and Systems Biological Medicine, Shanghai Jiao Tong University, Shanghai, China [f]Shanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China [g]Xinhua Hospital Chongming Branch Affiliated to Shanghai Jiao Tong University School of Medicine, China [h]Department of Psychiatry, The First Teaching Hospital of Xinjiang Medical University, Urumqi, China [i]Changning Mental Health Center, Shanghai, China [j]Department of Rheumatology and Immunology, People's Hospital of Xinjiang Ugyur Autonomous Region, Urumqi, 830001, China [k]Department of Rheumatology and Immunology, First Affiliated Hospital of Kunming Medical University, Kunming, 650032, China [l]Department of Rheumatology and Immunology, First Affiliated Hospital of Bengbu Medical College, 233000, China [m]Department of Urology, The Affiliated Hospital of Qingdao University, Qingdao, China [n]Key Laboratory, Department of Urology and Andrology, The Affiliated Hospital of Qingdao University, Qingdao, China
出处：
DOI： 10.1016/j.jaut.2020.102562
ISSN：

关键词： Adult-onset still's disease Genome-wide association studies Imputation MHC Single nucleotide polymorphism

摘要：
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. © 2020 Elsevier Ltd

基金：
This work was supported by the National Natural Science Foundation of China ( 81502016 for H-L.L., 81701321 , and 81871055 for Z.L.), Natural Science Foundation of Shandong Province ( ZR2019YQ14 for Z.L.), and Taishan Scholar Program of Shandong Province (tsqn201812153 for Z.L.).
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外文
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出版当年[2022]版：
大类 | 1 区 医学
小类 | 1 区 免疫学
最新[2023]版：
大类 | 1 区 医学
小类 | 2 区 免疫学
JCR分区：
出版当年[2021]版：
Q1 IMMUNOLOGY
最新[2023]版：
Q1 IMMUNOLOGY

影响因子： 最新[2023版] 最新五年平均 出版当年[2021版] 出版当年五年平均 出版前一年[2020版] 出版后一年[2022版]

第一作者：
第一作者机构： [a]Department of Rheumatology and Immunology, Shanghai Jiao Tong University School of Medicine Affiliated Ruijin Hospital, Shanghai, China
通讯作者：
推荐引用方式(GB/T 7714)：
Teng J.-L,Chen X,Chen J,et al.The amino acid variants in HLA II molecules explain the major association with adult-onset Still's disease in the Han Chinese population[J].JOURNAL OF AUTOIMMUNITY.2021,116:doi:10.1016/j.jaut.2020.102562.
APA：
Teng, J.-L,Chen, X,Chen, J,Zeng, T,He, L...&Liu, H.-L.(2021).The amino acid variants in HLA II molecules explain the major association with adult-onset Still's disease in the Han Chinese population.JOURNAL OF AUTOIMMUNITY,116,
MLA：
Teng, J.-L,et al."The amino acid variants in HLA II molecules explain the major association with adult-onset Still's disease in the Han Chinese population".JOURNAL OF AUTOIMMUNITY 116.(2021)

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