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A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23

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机构： [1]Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China [2]Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, Beijing, China [3]Department of Rheumatology and Immunology, The People’s Hospital of Xinjiang Uygur Autonomous Region,Urumqi, China [4]Department of Rheumatology, Affiliated Hospital of Inner Mongolia Medical College, Hohhot, China [5]Department of Rheumatology, The Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China [6]Department of Rheumatology and Immunity, Affiliated Anhui Provincial Hospital, Anhui Medical University, Hefei, China [7]Department of Rheumatology and Immunology, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China [8]Department of Immunology, General Hospital of Tianjin Medical University, Tianjin, China [9]Department of Rheumatology, SUN Yat-sen Memorial Hospital of SUN Yat-sen University, Guangzhou, China [10]Department of Rheumatology and Immunology, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China [11]Department of Rheumatology and Immunology, Xiangya Hospital Central-South University, Changsha, China [12]Department of Rheumatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China [13]Department of Rheumatology and Immunology, Affiliated Heping Hospital, Changzhi Medical College, Changzhi, China [14]Department of Rheumatology and Immunology, The First Affiliated Hospital of Bengbu Medical College, Bengbu,China [15]Department of Rheumatology and Immunology, Tangshan Gongren Hospital, Tangshan, China [16]Department of Rheumatology and Immunology,The First People’s Hospital of Changzhou, Changzhou, China [17]Department of Rheumatology and Immunology, Shanxi Medical University Second Hospital,Taiyuan, China [18]Department of Rheumatology, The First Hospital, China Medical University, Shenyang, China [19]Department of Rheumatology and Immunology,China-Japan Friendship Hospital, Beijing, China [20]Department of Rheumatology and Immunology, The Fourth Military Medical University Xijing Hospital, Xi’an, China [21]Department of Rheumatology and Immunology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China [22]Department of Rheumatology and Immunology, Changhai Hospital, Second Military Medical University, Shanghai, China [23]Department of Rheumatology and Immunology, The First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, China [24]Department of Rheumatology and Immunology, The Second Hospital of Lanzhou University, Lanzhou, China [25]Department of Rheumatology and Immunology, Beijing Hospital, Beijing, China [26]Department of Rheumatology, Guang’anmen Hospital, China Academy of Chinese Medical Sciences, Beijing, China [27]Department of Laboratory, Guang’anmen Hospital, China Academy of Chinese Medical Sciences, Beijing, China [28]Department of Rheumatology and Immunology, The Affiliated Hospital of Medical College Qingdao University, Qingdao, China [29]Department of Immunology and Rheumatology, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China [30]Department of Rheumatology and Immunology, Peking University First Hospital, Beijing, China [31]Department of Traditional Chinese Medicine, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China [32]Department of Rheumatology and Immunology, Guangxi Medical University First Affiliated Hospital, Nanning, China [33]Department of Rheumatology and Immunology, China-Japan Union Hospital of Jilin University, Changchun, China [34]Department of Rheumatology and Immunology, The First Affiliated Hospital of Baotou Medical College, Baotou, China [35]Department of Rheumatology and Immunology, Hebei People’s Hospital, Shijiazhuang, China [36]Department of Rheumatology and Immunology, Tianjin First Central Hospital, Tianjin, China [37]Department of Rheumatology and Immunology, Peking University People’s Hospital, Beijing, China [38]Department of Rheumatology and Immunology, First People’s Hospital of Yunnan University, Kunming, China [39]Department of Rheumatology, Jiangsu Provincial People’s Hospital, Nanjing, China [40]Department of Rheumatology and Immunology, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, Chengdu, China [41]Department of Rheumatology and Immunology, The Second Affiliated Hospital of Harbin Medical University, Harbin, China

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Primary Sjogren's syndrome is one of the most common autoimmune diseases. So far, genetic studies of Sjogren's syndrome have relied mostly on candidate gene approaches. To identify new genetic susceptibility loci for primary Sjogren's syndrome, we performed a three-stage genome-wide association study in Han Chinese. In the discovery stage, we analyzed 556,134 autosomal SNPs in 542 cases and 1,050 controls. We then validated promising associations in 2 replication stages comprising 1,303 cases and 2,727 controls. The combined analysis identified GTF2I at 7q11.23 (rs117026326: P-combined = 1.31 x 10(-53), combined odds ratio (ORcombined) = 2.20) as a new susceptibility locus for primary Sjogren's syndrome. Our analysis also confirmed previously reported associations in Europeans in the regions of STAT4, TNFAIP3 and the major histocompatibility complex (MHC). Fine mapping of the region around GTF2I showed that rs117026326 in GTF2I had the most significant association, with associated SNPs extending from GTF2I to GTF2IRD1-GTF2I.

基金：

基金编号： 201202004 2008BAI59B03 2012ZX09303006-002 KSCX2-EW-J-8 Y2CX131003 81072486 81172857 81101545

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大类 | 1 区

生物

小类 | 1 区遗传学

最新[2023]版：

大类 | 1 区

生物学

小类 | 1 区遗传学

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出版当年[2012]版：

Q1 GENETICS & HEREDITY

最新[2023]版：

Q1 GENETICS & HEREDITY

影响因子： 31.8 最新[2023版] 36.6 最新五年平均 35.209 出版当年[2012版] 34.52 出版当年五年平均 35.532 出版前一年[2011版] 29.648 出版后一年[2013版]

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第一作者机构： [1]Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China

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