Evaluation of PTPN22 polymorphisms and Vogt-Koyanagi-Harada disease in Japanese patients

Molecular Vision

Volumn 15, Issue , 2009, Pages 1115-1119

  Horie, Yukihiro ^a   Kitaichi, Nobuyoshi ^a   Katsuyama, Yoshihiko ^b   Yoshida, Kazuhiko ^a   Miura, Toshie ^a   Ota, Masao ^b   Asukata, Yuri ^c   Inoko, Hidetoshi ^d   Mizuki, Nobuhisa ^c   Ishida, Susumu ^a   Ohno, Shigeaki ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c YOKOHAMA CITY UNIVERSITY   (Japan)

^d TOKAI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CEREBROSPINAL FLUID PLEOCYTOSIS; CHOROIDITIS; CONTROLLED STUDY; EXON; EYE DISEASE; FEMALE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; MENINGISM; NUMMULAR CHORIORETINAL DEPIGMENTED SPOT; PLEOCYTOSIS; PRIORITY JOURNAL; PROTEIN TYROSINE PHOSPHATASE NON RECEPTOR 22 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN DISEASE; SUNSET GLOW FUNDUS; TINNITUS; VOGT KOYANAGI SYNDROME;

CHI-SQUARE DISTRIBUTION; FEMALE; GENE FREQUENCY; HUMANS; JAPAN; LINKAGE DISEQUILIBRIUM; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 22; SEQUENCE ANALYSIS, DNA; UVEOMENINGOENCEPHALITIC SYNDROME;

EID: 66649103328     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (29)

1. Goto H, Mochizuki M, Yamaki K, Kotake S, Usui M, Ohno S. Epidemiological survey of intraocular inflammation in Japan. Jpn J Ophthalmol 2007; 51:41-4.
2. Kitamura M, Takami K, Kitaichi N, Namba K, Kitamei H, Kotake S, Ohno S. Comparative study of two sets of criteria for the diagnosis of Vogt-Koyanagi-Harada's disease. Am J Ophthalmol 2005; 139:1080-5.
3. Read RW, Holland GN, Rao NA, Tabbara KF, Ohno S, Arellanes-Garcia L, Pivetti-Pezzi P, Tessler HH, Usui M. Revised diagnostic criteria for Vogt-Koyanagi-Harada disease: report of an international committee on nomenclature. Am J Ophthalmol 2001; 131:647-52.
4. Yamaki K, Gocho K, Hayakawa K, Kondo I, Sakuragi S. Tyrosinase family proteins are antigens specific to Vogt-Koyanagi-Harada disease. J Immunol 2000; 165:7323-9.
5. Yamaki K, Takiyama N, Itho N, Mizuki N, Seiya M, Sinsuke W, Hayakawa K, Kotani T. Experimentally induced Vogt-Koyanagi-Harada disease in two Akita dogs. Exp Eye Res 2005; 80:273-80.
6. Islam SM, Numaga J, Fujino Y, Hirata R, Matsuki K, Maeda H, Masuda K. HLA class II genes in Vogt-Koyanagi-Harada disease. Invest Ophthalmol Vis Sci 1994; 35:3890-6.
7. Horie Y, Takemoto Y, Miyazaki A, Namba K, Kase S, Yoshida K, Ota M, Hasumi Y, Inoko H, Mizuki N, Ohno S. Tyrosinase gene family and Vogt-Koyanagi-Harada disease in Japanese patients. Mol Vis 2006; 12:1601-5.
8. Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, MacMurray J, Meloni GF, Lucarelli P, Pellecchia M, Eisenbarth GS, Comings D, Mustelin T. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004; 36:337-8.
9. Siminovitch KA. PTPN22 and autoimmune disease. Nat Genet 2004; 36:1248-9.
10. Gregersen PK. Gaining insight into PTPN22 and autoimmunity. Nat Genet 2005; 37:1300-2.
11. Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, Conn MT, Chang M, Chang SY, Saiki RK, Catanese JJ, Leong DU, Garcia VE, McAllister LB, Jeffery DA, Lee AT, Batliwalla F, Remmers E, Criswell LA, Seldin MF, Kastner DL, Amos CI, Sninsky JJ, Gregersen PK. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 2004; 75:330-7.
12. Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, Chang M, Ramos P, Baechler EC, Batliwalla FM, Novitzke J, Williams AH, Gillett C, Rodine P, Graham RR, Ardlie KG, Gaffney PM, Moser KL, Petri M, Begovich AB, Gregersen PK, Behrens TW. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 2004; 75:504-7.
13. Michou L, Lasbleiz S, Rat AC, Migliorini P, Balsa A, Westhovens R, Barrera P, Alves H, Pierlot C, Glikmans E, Garnier S, Dausset J, Vaz C, Fernandes M, Petit-Teixeira E, Lemaire I, Pascual-Salcedo D, Bombardieri S, Dequeker J, Radstake TR, Van Riel P, van de Putte L, Lopes-Vaz A, Prum B, Bardin T, Dieude P, Cornelis F. Linkage proof for PTPN22, a rheumatoid arthritis susceptibility gene and a human autoimmunity gene. Proc Natl Acad Sci USA 2007; 104:1649-54.
14. Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J, Kern M, Moser KL, Begovich AB, Carlton VE, Li W, Lee AT, Ortmann W, Behrens TW, Gregersen PK. Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 2005; 76:561-71.
15. Wu H, Cantor RM, Graham DS, Lingren CM, Farwell L, Jager PL, Bottini N, Grossman JM, Wallace DJ, Hahn BH, Julkunen H, Hebert LA, Rovin BH, Birmingham DJ, Rioux JD, Yu CY, Kere J, Vyse TJ, Tsao BP. Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families: increased T allele frequency in systemic lupus erythematosus patients with autoimmune thyroid disease. Arthritis Rheum 2005; 52:2396-402.
16. Ichimura M, Kaku H, Fukutani T, Koga H, Mukai T, Miyake I, Yamada K, Koda Y, Hiromatsu Y. Associations of protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene polymorphisms with susceptibility to Graves' disease in a Japanese population. Thyroid 2008; 18:625-30.
17. Ikari K, Momohara S, Inoue E, Tomatsu T, Hara M, Yamanaka H, Kamatani N. Haplotype analysis revealed no association between the PTPN22 gene and RA in a Japanese population. Rheumatology (Oxford) 2006; 45:1345-8.
18. Hirakawa M, Tanaka T, Hashimoto Y, Kuroda M, Takagi T, Nakamura Y. JSNP: a database of common gene variations in the Japanese population. Nucleic Acids Res 2002; 30:158-62.
19. Haga H, Yamada R, Ohnishi Y, Nakamura Y, Tanaka T. Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190,562 genetic variations in the human genome. Single-nucleotide polymorphism. J Hum Genet 2002; 47:605-10.
20. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 2002; 70:425-34.
21. Stastny P. Association of the B-cell alloantigen DRw4 with rheumatoid arthritis. N Engl J Med 1978; 298:869-71.
22. Moorthy RS, Inomata H, Rao NA. Vogt-Koyanagi-Harada syndrome. Surv Ophthalmol 1995; 39:265-92.
23. Shindo Y, Inoko H, Yamamoto T, Ohno S. HLA-DRB1 typing of Vogt-Koyanagi-Harada's disease by PCR-RFLP and the strong association with DRB1*0405 and DRB1*0410. Br J Ophthalmol 1994; 78:223-6.
24. Ohno S, Nakamura S, Hori S, Shimakawa M, Kawashima H, Mochizuki M, Sugita S, Ueno S, Yoshizaki K, Inaba G. Efficacy, safety, and pharmacokinetics of multiple administration of infliximab in Behcet's disease with refractory uveoretinitis. J Rheumatol 2004; 31:1362-8.
25. Saito S, Ota S, Yamada E, Inoko H, Ota M. Allele frequencies and haplotypic associations defined by allelic DNA typing at HLA class I and class II loci in the Japanese population. Tissue Antigens 2000; 56:522-9.
26. Horie Y, Kitaichi N, Takemoto Y, Namba K, Yoshida K, Hirose S, Hasumi Y, Ota M, Inoko H, Mizuki N, Ohno S. Polymorphism of IFN-gamma gene and Vogt-Koyanagi-Harada disease. Mol Vis 2007; 13:2334-8.
27. Du L, Yang P, Hou S, Lin X, Zhou H, Huang X, Wang L, Kijlstra A. Association of the CTLA-4 gene with Vogt-Koyanagi-Harada syndrome. Clin Immunol 2008; 127:43-8.
28. Hou S, Yang P, Du L, Zhou H, Lin X, Liu X, Kijlstra A. Small ubiquitin-like modifier 4 (SUMO4) polymorphisms and Vogt-Koyanagi-Harada (VKH) syndrome in the Chinese Han population. Mol Vis 2008; 14:2597-603.
29. Meng Q, Liu X, Yang P, Hou S, Du L, Zhou H, Kijlstra A. PDCD1 genes may protect against extraocular manifestations in Chinese Han patients with Vogt-Koyanagi-Harada syndrome. Mol Vis 2009; 15:386-92.