A functional variant of PTPN22 confers risk for Vogt-Koyanagi-Harada syndrome but not for ankylosing spondylitis

PLoS ONE

Volumn 9, Issue 5, 2014, Pages

  Zhang, Qi ^a   Qi, Jian ^a   Hou, Shengping ^a   Du, Liping ^a   Yu, Hongsong ^a   Cao, Qingfeng ^a   Zhou, Yan ^a   Liao, Dan ^a   Kijlstra, Aize ^b   Yang, Peizeng ^a  

^a CHONGQING MEDICAL UNIVERSITY   (China)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 10; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; CYTOKINE; PTPN22 PROTEIN, HUMAN;

ANKYLOSING SPONDYLITIS; ARTICLE; CHINESE; CONTROLLED STUDY; CYTOKINE PRODUCTION; GENE FREQUENCY; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IMMUNOPATHOGENESIS; IRIDOCYCLITIS; LYMPHOCYTE PROLIFERATION; MAJOR CLINICAL STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE ACTIVATION; VOGT KOYANAGI SYNDROME; ANIMAL; BIOSYNTHESIS; BLOOD; CASE CONTROL STUDY; CELL PROLIFERATION; CYTOLOGY; ENZYMOLOGY; FEMALE; GENE EXPRESSION REGULATION; GENETICS; MALE; MENINGOENCEPHALITIS; METABOLISM; MONONUCLEAR CELL; MOUSE;

ANIMALS; CASE-CONTROL STUDIES; CELL PROLIFERATION; CYTOKINES; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LEUKOCYTES, MONONUCLEAR; MALE; MICE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 22; SPONDYLITIS, ANKYLOSING; UVEOMENINGOENCEPHALITIC SYNDROME;

EID: 84901218192     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0096943     Document Type: Article

References (52)

1. Smith JR, Rosenbaum JT (2002) Management of uveitis: a rheumatologic perspective. Arthritis and rheumatism 46: 309-318. (Pubitemid 34136568)
2. Yang P, Zhang Z, Zhou H, Li B, Huang X, et al. (2005) Clinical patterns and characteristics of uveitis in a tertiary center for uveitis in China. Current eye research 30: 943-948. (Pubitemid 43154688)
3. Ohguro N, Sonoda KH, Takeuchi M, Matsumura M, Mochizuki M (2012) The 2009 prospective multi-center epidemiologic survey of uveitis in Japan. Japanese journal of ophthalmology 56: 432-435.
4. Goto H, Mochizuki M, Yamaki K, Kotake S, Usui M, et al. (2007) Epidemiological survey of intraocular inflammation in Japan. Japanese journal of ophthalmology 51: 41-44. (Pubitemid 46281230)
5. Braun J, Sieper J (2007) Ankylosing spondylitis. Lancet 369: 1379-1390. (Pubitemid 46590387)
6. Yang P, Ren Y, Li B, Fang W, Meng Q, et al. (2007) Clinical characteristics of Vogt-Koyanagi-Harada syndrome in Chinese patients. Ophthalmology 114: 606-614.
7. Yang P, Fang W, Meng Q, Ren Y, Xing L, et al. (2008) Clinical features of chinese patients with Behcet's disease. Ophthalmology 115: 312-318 e314.
8. Lin Z, Bei JX, Shen M, Li Q, Liao Z, et al. (2012) A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. Nature genetics 44: 73-77.
9. Reveille JD, Sims AM, Danoy P, Evans DM, Leo P, et al. (2010) Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nature genetics 42: 123-127.
10. Shu Q, Yang P, Hou S, Li F, Chen Y, et al. (2010) Interleukin-17 gene polymorphism is associated with Vogt-Koyanagi-Harada syndrome but not with Behcet's disease in a Chinese Han population. Human immunology 71: 988-991.
11. Yamaki K, Gocho K, Hayakawa K, Kondo I, Sakuragi S (2000) Tyrosinase family proteins are antigens specific to Vogt-Koyanagi-Harada disease. Journal of immunology 165: 7323-7329. (Pubitemid 32001213)
12. Mizuki N, Meguro A, Ota M, Ohno S, Shiota T, et al. (2010) Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behcet's disease susceptibility loci. Nature genetics 42: 703-706.
13. Behrens TW (2011) Lyp breakdown and autoimmunity. Nature genetics 43: 821-822.
14. Siminovitch KA (2004) PTPN22 and autoimmune disease. Nature genetics 36: 1248-1249.
15. Gregersen PK (2005) Gaining insight into PTPN22 and autoimmunity. Nature genetics 37: 1300-1302.
16. Rhee I, Veillette A (2012) Protein tyrosine phosphatases in lymphocyte activation and autoimmunity. Nature immunology 13: 439-447.
17. Fousteri G, Liossis SN, Battaglia M (2013) Roles of the protein tyrosine phosphatase PTPN22 in immunity and autoimmunity. Clin Immunol 149: 556-565.
18. Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, et al. (2004) A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. American journal of human genetics 75: 330-337. (Pubitemid 38943877)
19. Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, et al. (2004) A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nature genetics 36: 337-338. (Pubitemid 38437254)
20. Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, et al. (2004) Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. American journal of human genetics 75: 504-507. (Pubitemid 39095825)
21. Ichimura M, Kaku H, Fukutani T, Koga H, Mukai T, et al. (2008) Associations of protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene polymorphisms with susceptibility to Graves' disease in a Japanese population. Thyroid: official journal of the American Thyroid Association 18: 625-630.
22. Orru V, Tsai SJ, Rueda B, Fiorillo E, Stanford SM, et al. (2009) A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. Hum Mol Genet 18: 569-579.
23. Mori M, Yamada R, Kobayashi K, Kawaida R, Yamamoto K (2005) Ethnic differences in allele frequency of autoimmune-disease-associated SNPs. Journal of human genetics 50: 264-266. (Pubitemid 40922327)
24. Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, et al. (2007) The PTPN22 C1858T functional polymorphism and autoimmune diseases - a meta-analysis. Rheumatology 46: 49-56. (Pubitemid 44932783)
25. Zhang ZH, Chen F, Zhang XL, Jin Y, Bai J, et al. (2008) PTPN22 allele polymorphisms in 15 Chinese populations. International journal of immunogenetics 35: 433-437.
26. Lee HS, Korman BD, Le JM, Kastner DL, Remmers EF, et al. (2009) Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations. Arthritis and rheumatism 60: 364-371.
27. Kawasaki E, Awata T, Ikegami H, Kobayashi T, Maruyama T, et al. (2006) Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. American journal of medical genetics Part A 140: 586-593. (Pubitemid 43376295)
28. Viken MK, Olsson M, Flam ST, Forre O, Kvien TK, et al. (2007) The PTPN22 promoter polymorphism -1123G>C association cannot be distinguished from the 1858C>T association in a Norwegian rheumatoid arthritis material. Tissue antigens 70: 190-197. (Pubitemid 47106642)
29. Taniyama M, Maruyama T, Tozaki T, Nakano Y, Ban Y (2010) Association of PTPN22 haplotypes with type 1 diabetes in the Japanese population. Human immunology 71: 795-798.
30. Huang JJ, Qiu YR, Li HX, Sun DH, Yang J, et al. (2012) A PTPN22 promoter polymorphism -1123G>C is associated with RA pathogenesis in Chinese. Rheumatology international 32: 767-771.
31. Ge J, Li H, Gu D, Du W, Xue F, et al. (2012) PTPN22 -1123G > C polymorphism is associated with susceptibility to primary immune thrombocytopenia in Chinese population. Platelets.
32. Zhang Q, Hou S, Jiang Z, Du L, Li F, et al. (2012) No association of PTPN22 polymorphisms with susceptibility to ocular Behcet's disease in two Chinese Han populations. PloS one 7: e31230.
33. van der Linden S, Valkenburg HA, Cats A (1984) Evaluation of diagnostic criteria for ankylosing spondylitis. A proposal for modification of the New York criteria. Arthritis and rheumatism 27: 361-368. (Pubitemid 14134775)
34. Read RW, Holland GN, Rao NA, Tabbara KF, Ohno S, et al. (2001) Revised diagnostic criteria for Vogt-Koyanagi-Harada disease: report of an international committee on nomenclature. American journal of ophthalmology 131: 647-652. (Pubitemid 32422124)
35. Hou S, Xiao X, Li F, Jiang Z, Kijlstra A, et al. (2012) Two-stage association study in Chinese Han identifies two independent associations in CCR1/CCR3 locus as candidate for Behcet's disease susceptibility. Human genetics 131: 1841-1850.
36. Burn GL, Svensson L, Sanchez-Blanco C, Saini M, Cope AP (2011) Why is PTPN22 a good candidate susceptibility gene for autoimmune disease? FEBS letters 585: 3689-3698.
37. Zheng J, Ibrahim S, Petersen F, Yu X (2012) Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, which depends on the localization of the affected tissue. Genes and immunity 13: 641-652.
38. Chew GY, Sinha U, Gatenby PA, Demalmanche T, Adelstein S, et al. (2013) Autoimmunity in primary antibody deficiency is associated with protein tyrosine phosphatase nonreceptor type 22 (PTPN22). The Journal of allergy and clinical immunology 131: 1130-1135 e1131.
39. Tang S, Peng W, Wang C, Tang H, Zhang Q (2012) Association of the PTPN22 gene (+1858C/T, -1123G/C) polymorphisms with type 1 diabetes mellitus: a systematic review and meta-analysis. Diabetes research and clinical practice 97: 446-452.
40. Aarnisalo J, Treszl A, Svec P, Marttila J, Oling V, et al. (2008) Reduced CD4+T cell activation in children with type 1 diabetes carrying the PTPN22/Lyp 620Trp variant. Journal of autoimmunity 31: 13-21.
41. Rieck M, Arechiga A, Onengut-Gumuscu S, Greenbaum C, Concannon P, et al. (2007) Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes. Journal of immunology 179: 4704-4710.
42. Anderson AC, Reddy J, Nazareno R, Sobel RA, Nicholson LB, et al. (2004) IL-10 plays an important role in the homeostatic regulation of the autoreactive repertoire in naive mice. Journal of immunology 173: 828-834. (Pubitemid 38924257)
43. Zhang J, Zahir N, Jiang Q, Miliotis H, Heyraud S, et al. (2011) The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness. Nature genetics 43: 902-907.
44. Wagenleiter SE, Klein W, Griga T, Schmiegel W, Epplen JT, et al. (2005) A case-control study of tyrosine phosphatase (PTPN22) confirms the lack of association with Crohn's disease. International journal of immunogenetics 32: 323-324. (Pubitemid 41392378)
45. Martin MC, Oliver J, Urcelay E, Orozco G, Gomez-Garcia M, et al. (2005) The functional genetic variation in the PTPN22 gene has a negligible effect on the susceptibility to develop inflammatory bowel disease. Tissue Antigens 66: 314-317. (Pubitemid 41406669)
46. Matesanz F, Rueda B, Orozco G, Fernandez O, Leyva L, et al. (2005) Protein tyrosine phosphatase gene (PTPN22) polymorphism in multiple sclerosis. Journal of neurology 252: 994-995. (Pubitemid 41186978)
47. Wipff J, Allanore Y, Kahan A, Meyer O, Mouthon L, et al. (2006) Lack of association between the protein tyrosine phosphatase non-receptor 22 (PTPN22)*620W allele and systemic sclerosis in the French Caucasian population. Annals of the rheumatic diseases 65: 1230-1232. (Pubitemid 44277403)
48. Orozco G, Garcia-Porrua C, Lopez-Nevot MA, Raya E, Gonzalez-Gay MA, et al. (2006) Lack of association between ankylosing spondylitis and a functional polymorphism of PTPN22 proposed as a general susceptibility marker for autoimmunity. Annals of the rheumatic diseases 65: 687-688.
49. Martin TM, Bye L, Modi N, Stanford MR, Vaughan R, et al. (2009) Genotype analysis of polymorphisms in autoimmune susceptibility genes, CTLA-4 and PTPN22, in an acute anterior uveitis cohort. Molecular vision 15: 208-212.
50. Huang CH, Wei JC, Chen CC, Chuang CS, Chou CH, et al. (2013) Associations of the PTPN22 and CTLA-4 genetic polymorphisms with Taiwanese ankylosing spondylitis. Rheumatol Int.
51. Horie Y, Kitaichi N, Katsuyama Y, Yoshida K, Miura T, et al. (2009) Evaluation of PTPN22 polymorphisms and Vogt-Koyanagi-Harada disease in Japanese patients. Molecular vision 15: 1115-1119.
52. McGonagle D, McDermott MF (2006) A proposed classification of the immunological diseases. PLoS medicine 3: e297.