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

被引：183

作者：

Li, Yongzhe ^{[1
,2
]}

Zhang, Kunlin ^{[3
]}

Chen, Hua ^{[1
,2
]}

Sun, Fei ^{[1
,2
]}

Xu, Juanjuan ^{[1
,2
]}

Wu, Ziyan ^{[1
,2
]}

Li, Ping ^{[1
,2
]}

Zhang, Liuyan ^{[3
]}

Du, Yang ^{[3
]}

Luan, Haixia ^{[1
,2
]}

Li, Xi ^{[1
,2
]}

Wu, Lijun ^{[4
]}

Li, Hongbin ^{[5
]}

Wu, Huaxiang ^{[6
]}

Li, Xiangpei ^{[7
]}

Li, Xiaomei ^{[7
]}

Zhang, Xiao ^{[8
]}

Gong, Lu ^{[9
]}

Dai, Lie ^{[10
]}

Sun, Lingyun ^{[11
]}

Zuo, Xiaoxia ^{[12
]}

Xu, Jianhua ^{[13
]}

Gong, Huiping ^{[14
]}

Li, Zhijun ^{[15
]}

Tong, Shengquan ^{[16
]}

Wu, Min ^{[17
]}

Li, Xiaofeng ^{[18
]}

Xiao, Weiguo ^{[19
]}

Wang, Guochun ^{[20
]}

Zhu, Ping ^{[21
]}

Shen, Min ^{[1
,2
]}

Liu, Shengyun ^{[22
]}

Zhao, Dongbao ^{[23
]}

Liu, Wei ^{[24
]}

Wang, Yi ^{[25
]}

Huang, Cibo ^{[26
]}

Jiang, Quan ^{[27
]}

Liu, Guijian ^{[28
]}

Liu, Bin ^{[29
]}

Hu, Shaoxian ^{[30
]}

Zhang, Wen ^{[1
,2
]}

Zhang, Zhuoli ^{[31
]}

You, Xin ^{[1
,2
]}

Li, Mengtao ^{[1
,2
]}

Hao, Weixin ^{[32
,33
]}

Zhao, Cheng ^{[34
]}

Leng, Xiaomei ^{[1
,2
]}

Bi, Liqi ^{[35
]}

Wang, Yongfu ^{[36
]}

Zhang, Fengxiao ^{[37
]}

机构：

[1] Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Rheumatol & Clin Immunol, Beijing 100021, Peoples R China

[2] Chinese Acad Med Sci, Minist Educ, Key Lab Rheumatol & Clin Immunol, Beijing 100730, Peoples R China

[3] Chinese Acad Sci, Inst Psychol, Key Lab Mental Hlth, Beijing 100101, Peoples R China

[4] Peoples Hosp Xinjiang Uygur Autonomous Reg, Dept Rheumatol & Immunol, Urumqi, Peoples R China

[5] Inner Mongolia Med Coll, Affiliated Hosp, Dept Rheumatol, Hohhot, Peoples R China

[6] Zhejiang Univ, Affiliated Hosp 2, Coll Med, Dept Rheumatol, Hangzhou 310027, Zhejiang, Peoples R China

[7] Anhui Med Univ, Affiliated Anhui Prov Hosp, Dept Rheumatol & Immun, Hefei, Peoples R China

[8] Guangdong Acad Med Sci, Guangdong Gen Hosp, Dept Rheumatol & Immunol, Guangzhou, Guangdong, Peoples R China

[9] Tianjin Med Univ, Gen Hosp, Dept Immunol, Tianjin, Peoples R China

[10] Sun Yat Sen Univ, SUN Yat Sen Mem Hosp, Dept Rheumatol, Guangzhou 510275, Guangdong, Peoples R China

[11] Nanjing Univ, Sch Med, Affiliated Drum Tower Hosp, Dept Rheumatol & Immunol, Nanjing 210008, Jiangsu, Peoples R China

[12] Cent South Univ, Xiangya Hosp, Dept Rheumatol & Immunol, Changsha 410083, Peoples R China

[13] Anhui Med Univ, Affiliated Hosp 1, Dept Rheumatol, Hefei, Peoples R China

[14] Changzhi Med Coll, Affiliated Heping Hosp, Dept Rheumatol & Immunol, Changzhi, Peoples R China

[15] Bengbu Med Coll, Affiliated Hosp 1, Dept Rheumatol & Immunol, Bengbu, Peoples R China

[16] Tangshan Gongren Hosp, Dept Rheumatol & Immunol, Tangshan, Peoples R China

[17] First Peoples Hosp Changzhou, Dept Rheumatol & Immunol, Changzhou, Peoples R China

[18] Shanxi Med Univ Second Hosp, Dept Rheumatol & Immunol, Taiyuan, Peoples R China

[19] China Med Univ, Hosp 1, Dept Rheumatol, Shenyang, Peoples R China

[20] China Japan Friendship Hosp, Dept Rheumatol & Immunol, Beijing, Peoples R China

[21] Fourth Mil Med Univ, Xijing Hosp, Dept Rheumatol & Immunol, Xian 710032, Peoples R China

[22] Zhengzhou Univ, Affiliated Hosp 1, Dept Rheumatol & Immunol, Zhengzhou 450052, Peoples R China

[23] Second Mil Med Univ, Changhai Hosp, Dept Rheumatol & Immunol, Shanghai, Peoples R China

[24] Tianjin Univ Tradit Chinese Med, Teaching Hosp 1, Dept Rheumatol & Immunol, Tianjin, Peoples R China

[25] Lanzhou Univ, Hosp 2, Dept Rheumatol & Immunol, Lanzhou 730000, Peoples R China

[26] Beijing Hosp, Dept Rheumatol & Immunol, Beijing, Peoples R China

[27] China Acad Chinese Med Sci, Guanganmen Hosp, Dept Rheumatol, Beijing, Peoples R China

[28] China Acad Chinese Med Sci, Guanganmen Hosp, Dept Lab, Beijing, Peoples R China

[29] Qingdao Univ, Affiliated Hosp, Coll Med, Dept Rheumatol & Immunol, Qingdao 266071, Peoples R China

[30] Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Immunol & Rheumatol, Wuhan 430074, Peoples R China

[31] Peking Univ, Hosp 1, Dept Rheumatol & Immunol, Beijing 100871, Peoples R China

[32] Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Tradit Chinese Med, Beijing 100021, Peoples R China

[33] Chinese Acad Med Sci, Beijing 100730, Peoples R China

[34] Guangxi Med Univ, Affiliated Hosp 1, Dept Rheumatol & Immunol, Nanning, Peoples R China

[35] Jilin Univ, China Japan Union Hosp, Dept Rheumatol & Immunol, Changchun 130023, Peoples R China

[36] Baotou Med Coll, Affiliated Hosp 1, Dept Rheumatol & Immunol, Baotou, Peoples R China

[37] Hebei Peoples Hosp, Dept Rheumatol & Immunol, Shijiazhuang, Peoples R China

[38] Tianjin First Cent Hosp, Dept Rheumatol & Immunol, Tianjin, Peoples R China

[39] Peking Univ, Peoples Hosp, Dept Rheumatol & Immunol, Beijing 100871, Peoples R China

[40] Yunnan Univ, Peoples Hosp 1, Dept Rheumatol & Immunol, Kunming, Peoples R China

[41] Jiangsu Prov Peoples Hosp, Dept Rheumatol, Nanjing, Jiangsu, Peoples R China

[42] Sichuan Acad Med Sci, Dept Rheumatol & Immunol, Chengdu, Peoples R China

[43] Sichuan Prov Peoples Hosp, Chengdu, Peoples R China

[44] Harbin Med Univ, Affiliated Hosp 2, Dept Rheumatol & Immunol, Harbin, Peoples R China

来源：

NATURE GENETICS | 2013年 / 45卷 / 11期

基金：

中国国家自然科学基金;

关键词：

SYSTEMIC-LUPUS-ERYTHEMATOSUS; HLA CLASS-II; RHEUMATOID-ARTHRITIS; TNFAIP3; VISUALIZATION; STAT4; RISK; PREVALENCE; VARIANTS; ALLELES;

D O I：

10.1038/ng.2779

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1361 / +

页数：7

共 53 条

[1] An integrated map of genetic variation from 1,092 human genomes [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Schmidt, Jeanette P. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Dinh, Huyen ;

Kovar, Christie ;

Lee, Sandra ;

Lewis, Lora ;

Muzny, Donna ;

Reid, Jeff ;

Wang, Min ;

Wang, Jun ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Li, Zhuo ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Su, Zhe ;

Tai, Shuaishuai ;

Tang, Meifang .

NATURE, 2012, 491 (7422) :56-65

[2] Integrating common and rare genetic variation in diverse human populations [J].

Altshuler, David M. ;

Gibbs, Richard A. ;

Peltonen, Leena ;

Dermitzakis, Emmanouil ;

Schaffner, Stephen F. ;

Yu, Fuli ;

Bonnen, Penelope E. ;

de Bakker, Paul I. W. ;

Deloukas, Panos ;

Gabriel, Stacey B. ;

Gwilliam, Rhian ;

Hunt, Sarah ;

Inouye, Michael ;

Jia, Xiaoming ;

Palotie, Aarno ;

Parkin, Melissa ;

Whittaker, Pamela ;

Chang, Kyle ;

Hawes, Alicia ;

Lewis, Lora R. ;

Ren, Yanru ;

Wheeler, David ;

Muzny, Donna Marie ;

Barnes, Chris ;

Darvishi, Katayoon ;

Hurles, Matthew ;

Korn, Joshua M. ;

Kristiansson, Kati ;

Lee, Charles ;

McCarroll, Steven A. ;

Nemesh, James ;

Keinan, Alon ;

Montgomery, Stephen B. ;

Pollack, Samuela ;

Price, Alkes L. ;

Soranzo, Nicole ;

Gonzaga-Jauregui, Claudia ;

Anttila, Verneri ;

Brodeur, Wendy ;

Daly, Mark J. ;

Leslie, Stephen ;

McVean, Gil ;

Moutsianas, Loukas ;

Nguyen, Huy ;

Zhang, Qingrun ;

Ghori, Mohammed J. R. ;

McGinnis, Ralph ;

McLaren, William ;

Takeuchi, Fumihiko ;

Grossman, Sharon R. .

NATURE, 2010, 467 (7311) :52-58

[3] Data quality control in genetic case-control association studies [J].

Anderson, Carl A. ;

Pettersson, Fredrik H. ;

Clarke, Geraldine M. ;

Cardon, Lon R. ;

Morris, Andrew P. ;

Zondervan, Krina T. .

NATURE PROTOCOLS, 2010, 5 (09) :1564-1573

[4] Haploview: analysis and visualization of LD and haplotype maps [J].

Barrett, JC ;

Fry, B ;

Maller, J ;

Daly, MJ .

BIOINFORMATICS, 2005, 21 (02) :263-265

[5] Genetic Structure of the Han Chinese Population Revealed by Genome-wide SNP Variation [J].

Chen, Jieming ;

Zheng, Houfeng ;

Bei, Jin-Xin ;

Sun, Liangdan ;

Jia, Wei-hua ;

Li, Tao ;

Zhang, Furen ;

Seielstad, Mark ;

Zeng, Yi-Xin ;

Zhang, Xuejun ;

Liu, Jianjun .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (06) :775-785

[6] Differential Genetic Associations for Systemic Lupus Erythematosus Based on Anti-dsDNA Autoantibody Production [J].

Chung, Sharon A. ;

Taylor, Kimberly E. ;

Graham, Robert R. ;

Nititham, Joanne ;

Lee, Annette T. ;

Ortmann, Ward A. ;

Jacob, Chaim O. ;

Alarcon-Riquelme, Marta E. ;

Tsao, Betty P. ;

Harley, John B. ;

Gaffney, Patrick M. ;

Moser, Kathy L. ;

Petri, Michelle ;

Demirci, F. Yesim ;

Kamboh, M. Ilyas ;

Manzi, Susan ;

Gregersen, Peter K. ;

Langefeld, Carl D. ;

Behrens, Timothy W. ;

Criswell, Lindsey A. .

PLOS GENETICS, 2011, 7 (03)

[7] Genes and Sjogren's Syndrome [J].

Cobb, Beth L. ;

Lessard, Christopher J. ;

Harley, John B. ;

Moser, Kathy L. .

RHEUMATIC DISEASE CLINICS OF NORTH AMERICA, 2008, 34 (04) :847-+

[8] Common and different genetic background for rheumatoid arthritis and coeliac disease [J].

Coenen, Marieke J. H. ;

Trynka, Gosia ;

Heskamp, Sandra ;

Franke, Barbara ;

van Diemen, Cleo C. ;

Smolonska, Joanna ;

van Leeuwen, Miek ;

Brouwer, Elisabeth ;

Boezen, Marike H. ;

Postma, Dirkje S. ;

Platteel, Mathieu ;

Zanen, Pieter ;

Lammers, Jan-Willem W. J. ;

Groen, Harry J. M. ;

Mali, Willem P. T. M. ;

Mulder, Chris J. ;

Tack, Greetje J. ;

Verbeek, Wieke H. M. ;

Wolters, Victorien M. ;

Houwen, Roderick H. J. ;

Mearin, M. Luisa ;

van Heel, David A. ;

Radstake, Timothy R. D. J. ;

van Riel, Piet L. C. M. ;

Wijmenga, Cisca ;

Barrera, Pilar ;

Zhernakova, Alexandra .

HUMAN MOLECULAR GENETICS, 2009, 18 (21) :4195-4203

[9] Sjogren's syndrome [J].

Fox, RI .

LANCET, 2005, 366 (9482) :321-331

[10] STAT4 is a confirmed genetic risk factor for Sjogren's syndrome and could be involved in type 1 interferon pathway signaling [J].

Gestermann, N. ;

Mekinian, A. ;

Comets, E. ;

Loiseau, P. ;

Puechal, X. ;

Hachulla, E. ;

Gottenberg, J-E ;

Mariette, X. ;

Miceli-Richard, C. .

GENES AND IMMUNITY, 2010, 11 (05) :432-438

← 1 2 3 4 5 6 →