PTPN22 -1123G > C polymorphism is associated with susceptibility to primary immune thrombocytopenia in Chinese population

References

• Fogarty PF, Segal JB. The epidemiology of immune thrombocytopenic purpura. Curr Opin Hematol 2007; 14(5)515–519
   PubMed Web of Science ®Google Scholar
• Frederiksen H, Schmidt K. The incidence of idiopathic thrombocytopenic purpura in adults increases with age. Blood 1999; 94(3)909–913
   PubMed Web of Science ®Google Scholar
• Yang R, Han ZC. Pathogenesis and management of chronic idiopathic thrombocytopenic purpura: An update. Int J Hematol 2000; 71(1)18–24
   PubMed Web of Science ®Google Scholar
• Zhou B, Zhao H, Yang RC, Han ZC. Multi-dysfunctional pathophysiology in ITP. Crit Rev Oncol Hematol 2005; 54(2)107–116
   PubMed Web of Science ®Google Scholar
• Kuwana M, Ikeda Y. The role of autoreactive T-cells in the pathogenesis of idiopathic thrombocytopenic purpura. Int J Hematol 2005; 81(2)106–112
   PubMed Web of Science ®Google Scholar
• Semple JW. Immune pathophysiology of autoimmune thrombocytopenic purpura. Blood Rev 2002; 16(1)9–12
   PubMed Web of Science ®Google Scholar
• Wu KH, Peng CT, Li TC, Wan L, Tsai CH, Lan SJ, Chang MC, Tsai FJ. Interleukin 4, interleukin 6 and interleukin 10 polymorphisms in children with acute and chronic immune thrombocytopenic purpura. Br J Haematol 2005; 128(6)849–852
   PubMed Web of Science ®Google Scholar
• Satoh T, Pandey JP, Okazaki Y, Yasuoka H, Kawakami Y, Ikeda Y, Kuwana M. Single nucleotide polymorphisms of the inflammatory cytokine genes in adults with chronic immune thrombocytopenic purpura. Br J Haematol 2004; 124(6)796–801
   PubMed Web of Science ®Google Scholar
• Foster CB, Zhu S, Erichsen HC, Lehrnbecher T, Hart ES, Choi E, Stein S, Smith MW, Steinberg SM, Imbach P, et al. Polymorphisms in inflammatory cytokines and Fcgamma receptors in childhood chronic immune thrombocytopenic purpura: A pilot study. Br J Haematol 2001; 113(3)596–599
   PubMed Web of Science ®Google Scholar
• Nomura S, Matsuzaki T, Ozaki Y, Yamaoka M, Yoshimura C, Katsura K, Xie GL, Kagawa H, Ishida T, Fukuhara S. Clinical significance of HLA-DRB1*0410 in Japanese patients with idiopathic thrombocytopenic purpura. Blood 1998; 91(10)3616–3622
   PubMed Web of Science ®Google Scholar
• Cloutier JF, Veillette A. Cooperative inhibition of T-cell antigen receptor signaling by a complex between a kinase and a phosphatase. J Exp Med 1999; 189(1)111–121
   PubMed Web of Science ®Google Scholar
• Gjorloff-Wingren A, Saxena M, Williams S, Hammi D, Mustelin T. Characterization of TCR-induced receptor-proximal signaling events negatively regulated by the protein tyrosine phosphatase PEP. Eur J Immunol 1999; 29(12)3845–3854
   PubMed Web of Science ®Google Scholar
• Wu J, Katrekar A, Honigberg LA, Smith AM, Conn MT, Tang J, Jeffery D, Mortara K, Sampang J, Williams SR, et al. Identification of substrates of human protein-tyrosine phosphatase PTPN22. J Biol Chem 2006; 281(16)11002–11010
   PubMed Web of Science ®Google Scholar
• Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, et al. 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(2)330–337
   PubMed Web of Science ®Google Scholar
• Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, MacMurray J, Meloni GF, Lucarelli P, Pellecchia M, et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004; 36(4)337–338
   PubMed Web of Science ®Google Scholar
• Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, Chang M, Ramos P, Baechler EC, Batliwalla FM, et al. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 2004; 75(3)504–507
   PubMed Web of Science ®Google Scholar
• Hinks A, Barton A, John S, Bruce I, Hawkins C, Griffiths CE, Donn R, Thomson W, Silman A, Worthington J. Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: Further support that PTPN22 is an autoimmunity gene. Arthritis Rheum 2005; 52(6)1694–1699
   PubMed Web of Science ®Google Scholar
• Smyth D, Cooper JD, Collins JE, Heward JM, Franklyn JA, Howson JM, Vella A, Nutland S, Rance HE, Maier L, et al. Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. Diabetes 2004; 53(11)3020–3023
   PubMed Web of Science ®Google Scholar
• Velaga MR, Wilson V, Jennings CE, Owen CJ, Herington S, Donaldson PT, Ball SG, James RA, Quinton R, Perros P, et al. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 2004; 89(11)5862–5865
   PubMed Web of Science ®Google Scholar
• Vandiedonck C, Capdevielle C, Giraud M, Krumeich S, Jais JP, Eymard B, Tranchant C, Gajdos P, Garchon HJ. Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis. Ann Neurol 2006; 59(2)404–407
   PubMed Web of Science ®Google Scholar
• Anis SK, Abdel Ghany EA, Mostafa NO, Ali AA. The role of PTPN22 gene polymorphism in childhood immune thrombocytopenic purpura. Blood Coagul Fibrinolysis 2011; 22(6)521–525
   PubMed Web of Science ®Google Scholar
• Vang T, Congia M, Macis MD, Musumeci L, Orru V, Zavattari P, Nika K, Tautz L, Tasken K, Cucca F, et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 2005; 37(12)1317–1319
   PubMed Web of Science ®Google Scholar
• Kawasaki E, Awata T, Ikegami H, Kobayashi T, Maruyama T, Nakanishi K, Shimada A, Uga M, Kurihara S, Kawabata Y, et al. 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. Am J Med Genet A 2006; 140(6)586–593
   PubMed Web of Science ®Google Scholar
• Viken MK, Olsson M, Flam ST, Forre O, Kvien TK, Thorsby E, Lie BA. The PTPN22 promoter polymorphism -1123G > C association cannot be distinguished from the 1858C > T association in a Norwegian rheumatoid arthritis material. Tissue Antigens 2007; 70(3)190–197
   PubMedGoogle Scholar
• Mori M, Yamada R, Kobayashi K, Kawaida R, Yamamoto K. Ethnic differences in allele frequency of autoimmune-disease-associated SNPs. J Hum Genet 2005; 50(5)264–266
   PubMed Web of Science ®Google Scholar
• Xu J, Lu S, Tao J, Zhou Z, Chen Z, Huang Y, Yang R. CD72 polymorphism associated with child-onset of idiopathic thrombocytopenic purpura in Chinese patients. J Clin Immunol 2008; 28(3)214–219
   PubMed Web of Science ®Google Scholar
• Chen Z, Zhou Z, Chen X, Xu J, Liu A, Du W, Gu D, Ge J, Guo Z, Wang X, et al. Single nucleotide polymorphism in DNMT3B promoter and the risk for idiopathic thrombocytopenic purpura in Chinese population. J Clin Immunol 2008; 28(5)399–404
   PubMed Web of Science ®Google Scholar
• Zhao H, Du W, Wang D, Gu D, Xue F, Ge J, Sui T, Yang R. Single nucleotide polymorphism in the methyl-CpG binding domain 4 gene and the risk for immune thrombocytopenic purpura in Chinese population. Platelets 2010; 21(2)132–136
   PubMed Web of Science ®Google Scholar
• Zhao H, Du W, Wang D, Gu D, Xue F, Ge J, Sui T, Yang R. The expression of IFN-gamma, IL-4, Foxp3 and perforin genes are not correlated with DNA methylation status in patients with immune thrombocytopenic purpura. Platelets 2010; 21(2)137–143
   PubMed Web of Science ®Google Scholar
• Xu J, Huang Y, Tao J, Zhou Z, Chen Z, Ge J, Yang R. An FcgammaRIIb transmembrane polymorphism in Chinese ITP patients. Platelets 2010; 21(6)479–485
   PubMed Web of Science ®Google Scholar
• Li H, Ge J, Zhao H, Du W, Xu J, Sui T, Ma L, Zhou Z, Qi A, Yang R. Association of cytotoxic T-lymphocyte antigen 4 gene polymorphisms with idiopathic thrombocytopenic purpura in a Chinese population. Platelets 2011; 22(1)37–42
   Web of Science ®Google Scholar
• Rodeghiero F, Stasi R, Gernsheimer T, Michel M, Provan D, Arnold DM, Bussel JB, Cines DB, Chong BH, Cooper N, et al. Standardization of terminology, definitions and outcome criteria in immune thrombocytopenic purpura of adults and children: Report from an international working group. Blood 2009; 113(11)2386–2393
   PubMed Web of Science ®Google Scholar
• Cines DB, Blanchette VS. Immune thrombocytopenic purpura. N Engl J Med 2002; 346(13)995–1008
   PubMed Web of Science ®Google Scholar
• Zeller B, Rajantie J, Hedlund-Treutiger I, Tedgard U, Wesenberg F, Jonsson OG, Henter JI. Childhood idiopathic thrombocytopenic purpura in the Nordic countries: Epidemiology and predictors of chronic disease. Acta Paediatr 2005; 94(2)178–184
   PubMed Web of Science ®Google Scholar
• Korman BD, Alba MI, Le JM, Alevizos I, Smith JA, Nikolov NP, Kastner DL, Remmers EF, Illei GG. Variant form of STAT4 is associated with primary Sjogren's syndrome. Genes Immun 2008; 9(3)267–270
   PubMed Web of Science ®Google Scholar
• Vella A, Cooper JD, Lowe CE, Walker N, Nutland S, Widmer B, Jones R, Ring SM, McArdle W, Pembrey ME, et al. Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms. Am J Hum Genet 2005; 76(5)773–779
   PubMed Web of Science ®Google Scholar
• Plenge RM, Cotsapas C, Davies L, Price AL, de Bakker PI, Maller J, Pe'er I, Burtt NP, Blumenstiel B, DeFelice M, et al. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 2007; 39(12)1477–1482
   PubMed Web of Science ®Google Scholar
• Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, Behrens TW, de Bakker PI, Le JM, Lee HS, Batliwalla F, et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 2007; 357(10)977–986
   PubMed Web of Science ®Google Scholar
• Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga Reddy MV, Sanchez E, Gunnarsson I, Svenungsson E, Sturfelt G, Jonsen A, et al. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet 2008; 40(2)211–216
   PubMed Web of Science ®Google Scholar
• Lee HS, Korman BD, Le JM, Kastner DL, Remmers EF, Gregersen PK, Bae SC. Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations. Arthritis Rheum 2009; 60(2)364–371
   PubMedGoogle Scholar
• 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(6)625–630
   PubMed Web of Science ®Google Scholar
• Cinek O, Hradsky O, Ahmedov G, Slavcev A, Kolouskova S, Kulich M, Sumnik Z. No independent role of the -1123 G > C and +2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. Diabetes Res Clin Pract 2007; 76(2)297–303
   PubMed Web of Science ®Google Scholar
• Huang JJ, Qiu YR, Li HX, Sun DH, Yang J, Yang CL. A PTPN22 promoter polymorphism -1123G > C is associated with RA pathogenesis in Chinese. Rheumatol Int 2012; 32(3)767–771
   PubMed Web of Science ®Google Scholar