PTPN22: Its role in SLE and autoimmunity

References

• Becker KG. The common variants/multiple disease hypothesis of common complex genetic disorders. Med Hypotheses 2004; 62(2)309–317
   PubMed Web of Science ®Google Scholar
• Marrack P, Kappler J, Kotzin BL. Autoimmune disease: Why and where it occurs. Nat Med 2001; 7(8)899–905
   PubMed Web of Science ®Google Scholar
• Ueda H, Howson JM, Esposito L, et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003; 423(6939)506–511
   PubMed Web of Science ®Google Scholar
• Bottini N, Vang T, Cucca F, Mustelin T. Role of PTPN22 in type 1 diabetes and other autoimmune diseases. Semin Immunol 2006; 18(4)207–213
   PubMed Web of Science ®Google Scholar
• Begovich AB, Carlton VE, Honigberg LA, 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
• Wu J, Katrekar A, Honigberg LA, 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
• Hasegawa K, Martin F, Huang G, et al. PEST domain-enriched tyrosine phosphatase (PEP) regulation of effector/memory T-cells. Science 2004; 303(5658)685–689
   PubMed Web of Science ®Google Scholar
• Bottini N, Musumeci L, Alonso A, 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
• Vang T, Congia M, Macis MD, 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
• Gregersen PK, Lee HS, Batliwalla F, Begovich AB. PTPN22: Setting thresholds for autoimmunity. Semin Immunol 2006; 18(4)214–223
   PubMed Web of Science ®Google Scholar
• Reddy MV, Johansson M, Sturfelt G, et al. The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1. Genes Immun 2005; 6(8)658–662
   Google Scholar
• Seldin MF, Shigeta R, Laiho K, et al. Finnish case-control and family studies support PTPN22 R620W polymorphism as a risk factor in rheumatoid arthritis, but suggest only minimal or no effect in juvenile idiopathic arthritis. Genes Immun 2005; 6(8)720–722
   PubMed Web of Science ®Google Scholar
• Orozco G, Sanchez E, Gonzalez-Gay MA, et al. Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum 2005; 52(1)219–224
   Google Scholar
• Wipff J, Allanore Y, Kahan A, et al. Lack of association between the protein tyrosine phosphatase non-receptor 22 (PTPN22)*620W allele and systemic sclerosis in the French Caucasian population. Ann Rheum Dis 2006; 65(9)1230–1232
   Google Scholar
• Jagiello P, Aries P, Arning L, et al. The PTPN22 620W allele is a risk factor for Wegener's granulomatosis. Arthritis Rheum 2005; 52(12)4039–4043
   Google Scholar
• Hinks A, Barton A, John S, et al. 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
• Kyogoku C, Langefeld CD, Ortmann WA, 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
• Criswell LA, Pfeiffer KA, Lum RF, et al. 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(4)561–571
   PubMed Web of Science ®Google Scholar
• Kaufman KM, Kelly JA, Herring BJ, et al. Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus. Arthritis Rheum 2006; 54(8)2533–2540
   Google Scholar
• Mori M, Yamada R, Kobayashi K, et al. Ethnic differences in allele frequency of autoimmune-disease-associated SNPs. J Hum Genet 2005; 50(5)264–266
   PubMed Web of Science ®Google Scholar
• Ban Y, Tozaki T, Taniyama M, et al. The codon 620 single nucleotide polymorphism of the protein tyrosine phosphatase-22 gene does not contribute to autoimmune thyroid disease susceptibility in the Japanese. Thyroid 2005; 15(10)1115–1118
   PubMed Web of Science ®Google Scholar
• Edberg JC, Begovich AB, McGwin G, Jr, et al. Lack of association of a genetic variant in PTPN22 with African Americans with SLE. Arthritis Rheum 2006; 54(9)S614
   Google Scholar
• Carlton VE, Hu X, Chokkalingam AP, et al. PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis. Am J Hum Genet 2005; 77(4)567–581
   PubMed Web of Science ®Google Scholar
• Hinks A, Eyre S, Barton A, et al. Investigation of genetic variation across PTPN22 in UK rheumatoid arthritis (RA) patients. Ann Rheum Dis 2006
   Google Scholar
• Onengut-Gumuscu S, Buckner JH, Concannon P. A haplotype-based analysis of the PTPN22 locus in type 1 diabetes. Diabetes 2006; 55(10)2883–2889
   PubMed Web of Science ®Google Scholar
• Kawasaki E, Awata T, Ikegami H, 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
• Cinek O, Hradsky O, Ahmedov G, et al. 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 2006
   Google Scholar
• Gomez LM, Anaya JM, Gonzalez CI, et al. PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases. Genes Immun 1858T; 6(7)628–631
   Google Scholar
• Viken MK, Amundsen SS, Kvien TK, et al. Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases. Genes Immun 2005; 6(3)271–273
   PubMed Web of Science ®Google Scholar
• Lee YH, Rho HY, Choi SJ, et al. The PTPN22 C1858T functional polymorphism and autoimmune diseases—a meta-analysis. Rheumatology (Oxford) 2007; 46(1)49–56
   PubMed Web of Science ®Google Scholar
• Baca V, Velazquez-Cruz R, Salas-Martinez G, et al. Association analysis of the PTPN22 gene in childhood-onset systemic lupus erythematosus in Mexican population. Genes Immun 2006; 7(8)693–695
   Google Scholar
• Wu H, Cantor RM, Graham DS, et al. 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(8)2396–2402
   PubMedGoogle Scholar
• Balada E, Villarreal-Tolchinsky J, Ordi-Ros J, et al. Multiplex family-based study in systemic lupus erythematosus: Association between the R620W polymorphism of PTPN22 and the FcgammaRIIa (CD32A) R131 allele. Tissue Antigens 2006; 68(5)432–438
   Google Scholar
• Michou L, Lasbleiz S, Rat AC, et al. Linkage proof for PTPN22, a rheumatoid arthritis susceptibility gene and a human autoimmunity gene. Proc Natl Acad Sci USA 2007; 104(5)1649–1654
   Web of Science ®Google Scholar
• Lee AT, Li W, Liew A, et al. The PTPN22 R620W polymorphism associates with RF positive rheumatoid arthritis in a dose-dependent manner but not with HLA-SE status. Genes Immun 2005; 6(2)129–133
   Google Scholar
• Plenge RM, Padyukov L, Remmers EF, et al. Replication of putative candidate-gene associations with rheumatoid arthritis in >4000 samples from North America and Sweden: Association of susceptibility with PTPN22, CTLA4 and PADI4. Am J Hum Genet 2005; 77(6)1044–1060
   PubMed Web of Science ®Google Scholar
• Velaga MR, Wilson V, Jennings CE, 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
• Heward JM, Brand OJ, Barrett JC, et al. Association of PTPN22 haplotypes with Graves' disease. J Clin Endocrinol Metab 2007; 92(2)685–690
   PubMed Web of Science ®Google Scholar
• Skorka A, Bednarczuk T, Bar-Andziak E, et al. Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves’ disease in a Polish population: Association and gene dose-dependent correlation with age of onset. Clin Endocrinol (Oxf) 2005; 62(6)679–682
   PubMed Web of Science ®Google Scholar
• Kahles H, Ramos-Lopez E, Lange B, et al. Sex-specific association of PTPN22 1858T with type 1 diabetes but not with Hashimoto's thyroiditis or Addison's disease in the German population. Eur J Endocrinol 2005; 153(6)895–899
   PubMed Web of Science ®Google Scholar
• Balada E, Simeon-Aznar CP, Serrano-Acedo S, et al. Lack of association of the PTPN22 gene polymorphism R620W with systemic sclerosis. Clin Exp Rheumatol 2006; 24(3)321–324
   Google Scholar
• Ittah M, Gottenberg JE, Proust A, et al. No evidence for association between 1858 C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjogren's syndrome. Genes Immun 2005; 6(5)457–458
   Google Scholar
• Begovich AB, Caillier SJ, Alexander HC, et al. The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis. Am J Hum Genet 2005; 76(1)184–187
   PubMedGoogle Scholar
• Matesanz F, Rueda B, Orozco G, et al. Protein tyrosine phosphatase gene (PTPN22) polymorphism in multiple sclerosis. J Neurol 2005; 252(8)994–995
   PubMed Web of Science ®Google Scholar
• De Jager PL, Sawcer S, Waliszewska A, et al. Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 in Crohn's disease and multiple sclerosis. Eur J Hum Genet 2006; 14(3)317–321
   PubMed Web of Science ®Google Scholar
• Martin MC, Oliver J, Urcelay E, et al. The functional genetic variation in the PTPN22 gene has a negligible effect on the susceptibility to develop inflammatory bowel disease. Tissue Antigens 2005; 66(4)314–317
   PubMedGoogle Scholar
• Prescott NJ, Fisher SA, Onnie C, et al. A general autoimmunity gene (PTPN22) is not associated with inflammatory bowel disease in a British population. Tissue Antigens 2005; 66(4)318–320
   Google Scholar
• Gonzalez-Gay MA, Oliver J, Orozco G, et al. Lack of association of a functional single nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with susceptibility to biopsy-proven giant cell arteritis. J Rheumatol 2005; 32(8)1510–1512
   Google Scholar
• Orozco G, Garcia-Porrua C, Lopez-Nevot MA, et al. Lack of association between ankylosing spondylitis and a functional polymorphism of PTPN22 proposed as a general susceptibility marker for autoimmunity. Ann Rheum Dis 2006; 65(5)687–688
   Google Scholar