Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3

Nature Genetics

Volumn 46, Issue 9, 2014, Pages 1007-1011

  Hou, Shengping ^a,b,c   Du, Liping ^a,b,c   Lei, Bo ^a,b,c   Pang, Chi Pui ^d   Zhang, Meifen ^e   Zhuang, Wenjuan ^f   Zhang, Minglian ^g   Huang, Lulin ^h   Gong, Bo ^h   Wang, Meilin ^i,j   Zhang, Qi ^a,b,c   Hu, Ke ^a,b,c   Zhou, Qingyun ^a,b,c   Qi, Jian ^a,b,c   Wang, Chaokui ^a,b,c   Tian, Yuan ^a,b,c,k   Ye, Zi ^a,b,c   Liang, Liang ^a,b,c   Yu, Hongsong ^a,b,c   Li, Hong ^a,b,c   Zhou, Yan ^a,b,c   Cao, Qingfeng ^a,b,c   Liu, Yunjia ^a,b,c   Bai, Lin ^a,b,c   Liao, Dan ^a,b,c   Kijlstra, Aize ^k   Xu, Jianfeng ^j,l   Yang, Zhenglin ^h,m   Yang, Peizeng ^a,b,c   more..

^a THE FIRST AFFILIATED HOSPITAL OF CHONGQING MEDICAL UNIVERSITY   (China)

^b Chongqing Key Laboratory of Ophthalmology   (China)

^c Chongqing Eye Institute   (China)

^d CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^e PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^f The People's Hospital of Ningxia Hui Autonomous Region   (China)

^g Xingtai Eye Hospital   (China)

^h SICHUAN PROVINCIAL PEOPLE'S HOSPITAL   (China)

ⁱ NANJING MEDICAL UNIVERSITY   (China)

^j WAKE FOREST SCHOOL OF MEDICINE   (United States)

^k MAASTRICHT UNIVERSITY   (Netherlands)

^l FUDAN UNIVERSITY   (China)

^m UNIVERSITY OF ELECTRONIC SCIENCE AND TECHNOLOGY OF CHINA   (China)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HLA DQA1 ANTIGEN; HLA DRB1 ANTIGEN; INTERLEUKIN 23 RECEPTOR; MESSENGER RNA;

ALLELE; ARTICLE; CHOROID; CILIARY BODY; CONTROLLED STUDY; GENE EXPRESSION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN TISSUE; IRIS; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROMOTER REGION; RISK; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION INITIATION; VOGT KOYANAGI SYNDROME; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CASE CONTROL STUDY; CHROMOSOME 1; CHROMOSOME 10; FEMALE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MENINGOENCEPHALITIS; MIDDLE AGED; PROCEDURES;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 10; FEMALE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; UVEOMENINGOENCEPHALITIC SYNDROME;

EID: 84922393291     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3061     Document Type: Article

References (48)

1. Yang, P. et al. Clinical characteristics of Vogt-Koyanagi-Harada syndrome in Chinese patients. Ophthalmology 114, 606-614 (2007
2. Moorthy, R.S., Inomata, H. & Rao, N.A. Vogt-Koyanagi-Harada syndrome. Surv. Ophthalmol. 39, 265-292 (1995
3. Kim, M.H. et al. Association of HLA with Vogt-Koyanagi-Harada syndrome in Koreans. Am. J. Ophthalmol. 129, 173-177 (2000
4. Weisz, J.M. et al. Association between Vogt-Koyanagi-Harada syndrome and HLA-DR1 and -DR4 in Hispanic patients living in southern California. Ophthalmology 102, 1012-1015 (1995
5. Zhao, M., Jiang, Y. & Abrahams, I.W. Association of HLA antigens with Vogt-Koyanagi-Harada syndrome in a Han Chinese population. Arch. Ophthalmol. 109, 368-370 (1991
6. Zhang, X.Y., Wang, X.M. & Hu, T.S. Profiling human leukocyte antigens in Vogt-Koyanagi-Harada syndrome. Am. J. Ophthalmol. 113, 567-572 (1992
7. Islam, S.M. et al. HLA class II genes in Vogt-Koyanagi-Harada disease. Invest. Ophthalmol. Vis. Sci. 35, 3890-3896 (1994
8. Hou, S. et al. Small ubiquitin-like modifier 4 (SUMO4) polymorphisms and Vogt-Koyanagi-Harada (VKH) syndrome in the Chinese Han population. Mol. Vis. 14, 2597-2603 (2008
9. Chu, M. et al. Elevated serum osteopontin levels and genetic polymorphisms of osteopontin are associated with Vogt-Koyanagi-Harada disease. Invest. Ophthalmol. Vis. Sci. 52, 7084-7089 (2011
10. Du, L. et al. Association of the CTLA-4 gene with Vogt-Koyanagi-Harada syndrome. Clin. Immunol. 127, 43-48 (2008
11. Zhang, C. et al. MIF gene polymorphisms confer susceptibility to Vogt-Koyanagi-Harada syndrome in a Han Chinese population. Invest. Ophthalmol. Vis. Sci. 54, 7734-7738 (2013
12. 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
13. Wang, K., Li, M. & Bucan, M. Pathway-based approaches for analysis of genomewide association studies. Am. J. Hum. Genet. 81, 1278-1283 (2007
14. Subramanian, A. et al. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc. Natl. Acad. Sci. USA 102, 15545-15550 (2005
15. Murakami, S., Inaba, Y., Mochizuki, M., Nakajima, A. & Urayama, A. A nationwide survey on the occurrence of Vogt-Koyanagi-Harada disease in Japan. Jpn. J. Ophthalmol. 38, 208-213 (1994
16. McMenamin, P.G., Crewe, J., Morrison, S. & Holt, P.G. Immunomorphologic studies of macrophages and MHC class II-positive dendritic cells in the iris and ciliary body of the rat, mouse, and human eye. Invest. Ophthalmol. Vis. Sci. 35, 3234-3250 (1994
17. Wasserman, W.W. & Sandelin, A. Applied bioinformatics for the identification of regulatory elements. Nat. Rev. Genet. 5, 276-287 (2004
18. Stranger, B.E. et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315, 848-853 (2007
19. Stranger, B.E. et al. Patterns of cis regulatory variation in diverse human populations. PLoS Genet. 8, e1002639 (2012
20. Jiang, Z., Yang, P., Hou, S., Li, F. & Zhou, H. Polymorphisms of IL23R and Vogt-Koyanagi-Harada syndrome in a Chinese Han population. Hum. Immunol. 71, 414-417 (2010
21. Mizuki, N. et al. Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behcet's disease susceptibility loci. Nat. Genet. 42, 703-706 (2010
22. Remmers, E.F. et al. Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet's disease. Nat. Genet. 42, 698-702 (2010
23. Jiang, Z. et al. IL23R gene confers susceptibility to Behcet's disease in a Chinese Han population. Ann. Rheum. Dis. 69, 1325-1328 (2010
24. Xavier, J.M. et al. Association study of IL10 and IL23R-IL12RB2 in Iranian patients with Behcet's disease. Arthritis Rheum. 64, 2761-2772 (2012
25. Kirino, Y. et al. Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behcet disease. Proc. Natl. Acad. Sci. USA 110, 8134-8139 (2013
26. Hughes, T. et al. Identification of multiple independent susceptibility loci in the HLA region in Behcet's disease. Nat. Genet. 45, 319-324 (2013
27. Kirino, Y. et al. Genome-wide association analysis identifies new susceptibility loci for Behcet's disease and epistasis between HLA-B 51 and ERAP1. Nat. Genet. 45, 202-207 (2013
28. Duerr, R.H. et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 314, 1461-1463 (2006
29. Barrett, J.C. et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat. Genet. 40, 955-962 (2008
30. Cargill, M. et al. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am. J. Hum. Genet. 80, 273-290 (2007
31. McGovern, D.P. et al. Genome-wide association identifies multiple ulcerative colitis susceptibility loci. Nat. Genet. 42, 332-337 (2010
32. Silverberg, M.S. et al. Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. Nat. Genet. 41, 216-220 (2009
33. Burton, P.R. et al. Association scan of 14, 500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat. Genet. 39, 1329-1337 (2007
34. Rioux, J.D. et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat. Genet. 39, 596-604 (2007
35. Evans, D.M. et al. Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat. Genet. 43, 761-767 (2011
36. Nair, R.P. et al. Genome-wide scan reveals association of psoriasis with IL-23 and NF-?B pathways. Nat. Genet. 41, 199-204 (2009
37. Strange, A. et al. A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat. Genet. 42, 985-990 (2010
38. Haritunians, T. et al. Variants in ZNF365 isoform D are associated with Crohn's disease. Gut 60, 1060-1067 (2011
39. Wellcome Trust Case Control Consortium. Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature 447, 661-678 (2007
40. Hirota, T. et al. Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. Nat. Genet. 44, 1222-1226 (2012
41. Sun, L.D. et al. Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population. Nat. Genet. 43, 690-694 (2011
42. Lindström, S. et al. Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. Nat. Genet. 43, 185-187 (2011
43. Okamura, T., Fujio, K., Sumitomo, S. & Yamamoto, K. Roles of LAG3 and EGR2 in regulatory T cells. Ann. Rheum. Dis. 71 (suppl. 2), i96-i100 (2012
44. Li, S. et al. The transcription factors Egr2 and Egr3 are essential for the control of inflammation and antigen-induced proliferation of B and T cells. Immunity 37, 685-696 (2012
45. Read, R.W. et al. Revised diagnostic criteria for Vogt-Koyanagi-Harada disease: report of an international committee on nomenclature. Am. J. Ophthalmol. 131, 647-652 (2001
46. International Study Group for Behçet's Disease. Criteria for diagnosis of Behcet's disease. Lancet 335, 1078-1080 (1990
47. Howie, B., Marchini, J & Stephens, M. Genotype Imputation with Thousands of Genomes G3 (Bethesda) 1, 457-470 (2011
48. Zheng, X. et al. HIBAG-HLA genotype imputation with attribute bagging. Pharmacogenomics J. 14, 192-200 (2014