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

Nature Genetics

Volumn 45, Issue 11, 2013, Pages 1361-1367

  Zhang, Fengchun ^a   Li, Yongzhe ^a   Zhang, Kunlin ^b   Chen, Hua ^a   Sun, Fei ^a   Xu, Juanjuan ^a   Wu, Ziyan ^a   Li, Ping ^a   Zhang, Liuyan ^b   Du, Yang ^b   Luan, Haixia ^a   Li, Xi ^a   Wu, Lijun ^c   Li, Hongbin ^d   Wu, Huaxiang ^e   Li, Xiangpei ^f   Li, Xiaomei ^f   Zhang, Xiao ^g   Gong, Lu ^h   Dai, Lie ⁱ   Sun, Lingyun ^j   Zuo, Xiaoxia ^k   Xu, Jianhua ^f   Gong, Huiping ^l   Li, Zhijun ^m   Tong, Shengquan ⁿ   Wu, Min ^o   Li, Xiaofeng ^p   Xiao, Weiguo ^q   Wang, Guochun ^r   Zhu, Ping ^s   Shen, Min ^a   Liu, Shengyun ^t   Zhao, Dongbao ^u   Liu, Wei ^v   Wang, Yi ^w   Huang, Cibo ^x   Jiang, Quan ^y   Liu, Guijian ^y   Liu, Bin ^z   Hu, Shaoxian ^aa   Zhang, Wen ^a   Zhang, Zhuoli ^ab   You, Xin ^a   Li, Mengtao ^a   Hao, Weixin ^a   Zhao, Cheng ^ac   Leng, Xiaomei ^a   Bi, Liqi ^ad   Wang, Yongfu ^ae   Zhang, Fengxiao ^af   Shi, Qun ^a   Qi, Wencheng ^ag   Zhang, Xuewu ^ah   Jia, Yuan ^ah   Su, Jinmei ^a   Li, Qin ^ai   Hou, Yong ^a   Wu, Qingjun ^a   Xu, Dong ^a   Zheng, Wenjie ^a   Zhang, Miaojia ^aj   Wang, Qian ^a   Fei, Yunyun ^a   Zhang, Xuan ^a   Li, Jing ^a   Jiang, Ying ^a   Tian, Xinping ^a   Zhao, Lidan ^a   Wang, Li ^a   Zhou, Bin ^ak   Li, Yang ^al   Zhao, Yan ^a   Zeng, Xiaofeng ^a   Ott, Jurg ^b   Wang, Jing ^b   more..

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b INSTITUTE OF PSYCHOLOGY   (China)

^c PEOPLE S HOSPITAL OF XINJIANG UYGUR AUTONOMOUS REGION   (China)

^d INNER MONGOLIA MEDICAL COLLEGE   (China)

^e ZHEJIANG UNIVERSITY   (China)

^f ANHUI MEDICAL UNIVERSITY   (China)

^g GUANGDONG PROVINCIAL PEOPLE'S HOSPITAL   (China)

^h TIANJIN MEDICAL UNIVERSITY   (China)

ⁱ SUN YAT SEN UNIVERSITY   (China)

^j THE AFFILIATED DRUM TOWER HOSPITAL OF NANJING UNIVERSITY MEDICAL SCHOOL   (China)

^k CENTRAL SOUTH UNIVERSITY   (China)

^l CHANGZHI MEDICAL COLLEGE   (China)

^m BENGBU MEDICAL COLLEGE   (China)

ⁿ Tangshan Gongren Hospital   (China)

^o THE THIRD AFFILIATED HOSPITAL OF SOOCHOW UNIVERSITY   (China)

^p SHANXI MEDICAL UNIVERSITY   (China)

^q CHINA MEDICAL UNIVERSITY   (China)

^r CHINA JAPAN FRIENDSHIP HOSPITAL   (China)

^s FOURTH MILITARY MEDICAL UNIVERSITY   (China)

^t THE FIRST AFFILIATED HOSPITAL OF ZHENGZHOU UNIVERSITY   (China)

^u SECOND MILITARY MEDICAL UNIVERSITY   (China)

^v FIRST TEACHING HOSPITAL OF TIANJIN UNIVERSITY OF TRADITIONAL CHINESE MEDICINE   (China)

^w LANZHOU UNIVERSITY   (China)

^x BEIJING HOSPITAL   (China)

^y INSTITUTE OF CHINESE MATERIA MEDICA   (China)

^z QINGDAO UNIVERSITY   (China)

^aa HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^ab PEKING UNIVERSITY FIRST HOSPITAL   (China)

^ac FIRST AFFILIATED HOSPITAL OF GUANGXI MEDICAL UNIVERSITY   (China)

^ad CHINA JAPAN UNION HOSPITAL OF JILIN UNIVERSITY   (China)

^ae BAOTOU MEDICAL COLLEGE   (China)

^af HEBEI GENERAL HOSPITAL   (China)

^ag TIANJIN FIRST CENTRAL HOSPITAL   (China)

^ah PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

^ai YUNNAN UNIVERSITY   (China)

^aj THE FIRST AFFILIATED HOSPITAL OF NANJING MEDICAL UNIVERSITY   (China)

^ak SICHUAN PROVINCIAL PEOPLE'S HOSPITAL   (China)

^al THE SECOND AFFILIATED HOSPITAL OF HARBIN MEDICAL UNIVERSITY   (China)

more..

Author keywords

[No Author keywords available]

Indexed keywords

STAT4 PROTEIN;

CHINESE; CONTROLLED STUDY; GENE LOCUS; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HUMAN; LETTER; MAJOR CLINICAL STUDY; MAJOR HISTOCOMPATIBILITY COMPLEX; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SJOEGREN SYNDROME;

CHINA; CHROMOSOMES, HUMAN, PAIR 7; DNA-BINDING PROTEINS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MAJOR HISTOCOMPATIBILITY COMPLEX; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SJOGREN'S SYNDROME; STAT4 TRANSCRIPTION FACTOR; TRANSCRIPTION FACTORS, TFII;

EID: 84887085183     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2779     Document Type: Letter

References (53)

1. Fox, R.I. Sjogren's syndrome. Lancet 366, 321-331 (2005
2. Helmick, C.G. et al. Estimates of the prevalence of arthritis and other rheumatic conditions in the United States. Part I. Arthritis Rheum. 58, 15-25 (2008
3. Zhang, N.Z. et al. Prevalence of primary Sjogren's syndrome in China. J. Rheumatol. 22, 659-661 (1995
4. Ice, J.A. et al. Genetics of Sjogren's syndrome in the genome-wide association era. J. Autoimmun. 39, 57-63 (2012
5. Cobb, B.L., Lessard, C.J., Harley, J.B. & Moser, K.L. Genes and Sjogren's syndrome. Rheum. Dis. Clin. North Am. 34, 847-868 (2008
6. Palomino-Morales, R.J., Diaz-Gallo, L.M., Witte, T., Anaya, J.M. & Martin, J. Influence of STAT4 polymorphism in primary Sjogren's syndrome. J. Rheumatol. 37, 1016-1019 (2010
7. Visscher, P.M., Brown, M.A., McCarthy, M.I. & Yang, J. Five years of GWAS discovery. Am. J. Hum. Genet. 90, 7-24 (2012
8. Williams, P.H. et al. Horizons in Sjogren's syndrome genetics. Clin. Rev. Allergy Immunol. 32, 201-209 (2007
9. Kang, H.I. et al. Comparison of HLA class II genes in Caucasoid, Chinese, and Japanese patients with primary Sjogren's syndrome. J. Immunol. 150, 3615-3623 (1993
10. Gottenberg, J.E. et al. In primary Sjogren's syndrome, HLA class II is associated exclusively with autoantibody production and spreading of the autoimmune response. Arthritis Rheum. 48, 2240-2245 (2003
11. Gill, H.K. et al. Defining p47-phox deficient chronic granulomatous disease in a Malay family. Asian Pac. J. Allergy Immunol. 30, 313-320 (2012
12. Vandeweyer, G., Van der Aa, N., Reyniers, E. & Kooy, R.F. The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. Am. J. Hum. Genet. 90, 1071-1078 (2012
13. Roy, A.L. Biochemistry and biology of the inducible multifunctional transcription factor TFII-I: 10 years later. Gene 492, 32-41 (2012
14. Tassabehji, M. et al. GTF2IRD1 in craniofacial development of humans and mice. Science 310, 1184-1187 (2005
15. Korman, B.D. et al. Variant form of STAT4 is associated with primary Sjogren's syndrome. Genes Immun. 9, 267-270 (2008
16. Nordmark, G. et al. Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjogren's syndrome. Genes Immun. 10, 68-76 (2009
17. Gestermann, N. et al. STAT4 is a confirmed genetic risk factor for Sjogren's syndrome and could be involved in type 1 interferon pathway signaling. Genes Immun. 11, 432-438 (2010
18. Musone, S.L. et al. Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases. Genes Immun. 12, 176-182 (2011
19. Han, J.W. et al. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. Nat. Genet. 41, 1234-1237 (2009
20. Yang, W. et al. Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus. PLoS Genet. 6, e1000841 (2010
21. Yang, W. et al. Meta-Analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1 and ARID5B as associated with systemic lupus erythematosus in Asians. Am. J. Hum. Genet. 92, 41-51 (2013
22. Okada, Y. et al. A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese. PLoS Genet. 8, e1002455 (2012
23. Hom, G. et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N. Engl. J. Med. 358, 900-909 (2008
24. Graham, R.R. et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat. Genet. 40, 1059-1061 (2008
25. Chung, S.A. et al. Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. PLoS Genet. 7, e1001323 (2011
26. Zhernakova, A. et al. Meta-Analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. PLoS Genet. 7, e1002004 (2011
27. Radstake, T.R. et al. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nat. Genet. 42, 426-429 (2010
28. Mells, G.F. et al. Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. Nat. Genet. 43, 329-332 (2011
29. Shimane, K. et al. The association of a nonsynonymous single-nucleotide polymorphism in TNFAIP3 with systemic lupus erythematosus and rheumatoid arthritis in the Japanese population. Arthritis Rheum. 62, 574-579 (2010
30. Musone, S.L. et al. Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nat. Genet. 40, 1062-1064 (2008
31. Plenge, R.M. et al. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat. Genet. 39, 1477-1482 (2007
32. Coenen, M.J. et al. Common and different genetic background for rheumatoid arthritis and coeliac disease. Hum. Mol. Genet. 18, 4195-4203 (2009
33. Trynka, G. et al. Coeliac disease-Associated risk variants in TNFAIP3 and REL implicate altered NF-κB signalling. Gut 58, 1078-1083 (2009
34. Toussirot, E. & Roudier, J. Epstein-Barr virus in autoimmune diseases. Best Pract. Res. Clin. Rheumatol. 22, 883-896 (2008
35. Perl, A. Emerging new pathways of pathogenesis and targets for treatment in systemic lupus erythematosus and Sjogren's syndrome. Curr. Opin. Rheumatol. 21, 443-447 (2009
36. Vitali, C. et al. Classification criteria for Sjogren's syndrome: A revised version of the European criteria proposed by the American-European Consensus Group. Ann. Rheum. Dis. 61, 554-558 (2002
37. Hancock, D.B. et al. Meta-Analyses of genome-wide association studies identify multiple loci associated with pulmonary function. Nat. Genet. 42, 45-52 (2010
38. Patterson, N., Price, A.L. & Reich, D. Population structure and eigenanalysis. PLoS Genet. 2, e190 (2006
39. Price, A.L. et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet. 38, 904-909 (2006
40. Altshuler, D.M. et al. Integrating common and rare genetic variation in diverse human populations. Nature 467, 52-58 (2010
41. Shi, Y. et al. A genome-wide association study identifies new susceptibility loci for non-cardia gastric cancer at 3q13.31 and 5p13.1. Nat. Genet. 43, 1215-1218 (2011
42. Hu, Z. et al. A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese. Nat. Genet. 43, 792-796 (2011
43. Chen, J. et al. Genetic structure of the Han Chinese population revealed by genome-wide SNP variation. Am. J. Hum. Genet. 85, 775-785 (2009
44. Anderson, C.A. et al. Data quality control in genetic case-control association studies. Nat. Protoc. 5, 1564-1573 (2010
45. Hindorff, L.A. et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl. Acad. Sci. USA 106, 9362-9367 (2009
46. Purcell, S. et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007
47. Barrett, J.C., Fry, B., Maller, J. & Daly, M.J. Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263-265 (2005
48. Yang, Y., He, C. & Ott, J. Testing association with interactions by partitioning chi-squares. Ann. Hum. Genet. 73, 109-117 (2009
49. Li, Y., Willer, C.J., Ding, J., Scheet, P. & Abecasis, G.R. MaCH: Using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet. Epidemiol. 34, 816-834 (2010
50. Abecasis, G.R. et al. An integrated map of genetic variation from 1,092 human genomes. Nature 491, 56-65 (2012
51. Pruim, R.J. et al. LocusZoom: Regional visualization of genome-wide association scan results. Bioinformatics 26, 2336-2337 (2010
52. Yang, T.P. et al. Genevar: A database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies. Bioinformatics 26, 2474-2476 (2010
53. Stranger, B.E. et al. Patterns of cis regulatory variation in diverse human populations. PLoS Genet. 8, e1002639 (2012