PTPN22

Summary

Gene Symbol: PTPN22
Description: protein tyrosine phosphatase, non-receptor type 22
Alias: LYP, LYP1, LYP2, PEP, PTPN22.5, PTPN22.6, PTPN8, tyrosine-protein phosphatase non-receptor type 22, PEST-domain phosphatase, hematopoietic cell protein-tyrosine phosphatase 70Z-PEP, lymphoid-specific protein tyrosine phosphatase, protein tyrosine phosphatase, non-receptor type 22 (lymphoid), protein tyrosine phosphatase, non-receptor type 8
Species: human
Products:     PTPN22

Top Publications

  1. Van Oene M, Wintle R, Liu X, Yazdanpanah M, Gu X, Newman B, et al. Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations. Arthritis Rheum. 2005;52:1993-8 pubmed
    A single-nucleotide polymorphism in the PTPN22 gene encoding the lymphoid protein tyrosine phosphatase (Lyp) has recently been identified as a functional variant associated with susceptibility to rheumatoid arthritis (RA), type 1 diabetes,..
  2. Pettersen E, Skorpen F, Kvaløy K, Midthjell K, Grill V. Genetic heterogeneity in latent autoimmune diabetes is linked to various degrees of autoimmune activity: results from the Nord-Trøndelag Health Study. Diabetes. 2010;59:302-10 pubmed publisher
    ..004 and P = 0.004, respectively). Genetic heterogeneity in LADA is linked to various degrees of autoimmune activity and may be partly distinct from both type 1 and type 2 diabetes. ..
  3. Hinks A, Barton A, John S, Bruce I, Hawkins C, Griffiths C, 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;52:1694-9 pubmed
    The protein tyrosine phosphatase N22 (PTPN22) gene exhibits regulatory activities for both T cells and B cells...
  4. Nielsen L, Pörksen S, Andersen M, Fredheim S, Svensson J, Hougaard P, et al. The PTPN22 C1858T gene variant is associated with proinsulin in new-onset type 1 diabetes. BMC Med Genet. 2011;12:41 pubmed publisher
    The protein tyrosine phosphatase nonreceptor type 2 (PTPN22) has been established as a type 1 diabetes susceptibility gene...
  5. Zhernakova A, Eerligh P, Wijmenga C, Barrera P, Roep B, Koeleman B. Differential association of the PTPN22 coding variant with autoimmune diseases in a Dutch population. Genes Immun. 2005;6:459-61 pubmed
    Protein tyrosine phosphatase PTPN22 is involved in the negative regulation of T-cell responsiveness...
  6. Orozco G, Pascual Salcedo D, Lopez Nevot M, Cobo T, Cabezón A, Martin Mola E, et al. Auto-antibodies, HLA and PTPN22: susceptibility markers for rheumatoid arthritis. Rheumatology (Oxford). 2008;47:138-41 pubmed
    ..of auto-antibodies [rheumatoid factor (RF) and anti-cyclic citrullinated peptide (anti-CCP)], HLA-DRB1 alleles and PTPN22 1858 C/T polymorphism and test the value of their combination as susceptibility markers for rheumatoid arthritis (..
  7. Horie Y, Kitaichi N, Katsuyama Y, Yoshida K, Miura T, Ota M, et al. Evaluation of PTPN22 polymorphisms and Vogt-Koyanagi-Harada disease in Japanese patients. Mol Vis. 2009;15:1115-9 pubmed
    ..Polymorphisms of the protein tyrosine phosphatase non-receptor 22 gene (PTPN22) have recently been reported to be associated with susceptibility to several autoimmune diseases...
  8. Matthews R, Bowne D, Flores E, Thomas M. Characterization of hematopoietic intracellular protein tyrosine phosphatases: description of a phosphatase containing an SH2 domain and another enriched in proline-, glutamic acid-, serine-, and threonine-rich sequences. Mol Cell Biol. 1992;12:2396-405 pubmed
    ..The other PTPase, PEP (proline-, glutamic acid-, serine-, and threonine-rich [PEST]-domain phosphatase), is distinguished by virtue of a ..
  9. Hinks A, Eyre S, Barton A, Thomson W, Worthington J. Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK. Ann Rheum Dis. 2007;66:683-6 pubmed
    To investigate single-nucleotide polymorphisms (SNPs) across the PTPN22 gene region in a UK cohort of patients with rheumatoid arthritis (RA), to look for evidence of disease associations independent of the well-characterised R620W ..

More Information

Publications196 found, 100 shown here

  1. Baranathan V, Stanford M, Vaughan R, Kondeatis E, Graham E, Fortune F, et al. The association of the PTPN22 620W polymorphism with Behcet's disease. Ann Rheum Dis. 2007;66:1531-3 pubmed
    A single nucleotide polymorphism (SNP) of the gene encoding protein tyrosine phosphatase type 22 (PTPN22 620W) has recently been described as a strong common genetic risk factor for human autoimmune disease...
  2. El Zawahry B, Azzam O, Zaki N, Abdel Raheem H, Bassiouny D, Khorshied M. PTPN22 gene polymorphism in Egyptian alopecia areata patients and its impact on response to diphencyprone immunotherapy. Gene. 2013;523:147-51 pubmed publisher
    b>PTPN22 1858C>T gene polymorphism has been associated with several autoimmune disorders including alopecia areata...
  3. Heward J, Brand O, Barrett J, Carr Smith J, Franklyn J, Gough S. Association of PTPN22 haplotypes with Graves' disease. J Clin Endocrinol Metab. 2007;92:685-90 pubmed
    A recent study reported associations of a series of single nucleotide polymorphisms (SNPs) within PTPN22, including rs2476601, with rheumatoid arthritis...
  4. Gregersen P, Kosoy R, Lee A, Lamb J, Sussman J, McKee D, et al. Risk for myasthenia gravis maps to a (151) Pro?Ala change in TNIP1 and to human leukocyte antigen-B*08. Ann Neurol. 2012;72:927-35 pubmed publisher
    ..The objective of this study is to comprehensively define the genetic basis of early onset myasthenia gravis (EOMG)...
  5. Zheng W, She J. Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes. Diabetes. 2005;54:906-8 pubmed
    The lymphoid-specific phosphatase (LYP) encoded by PTPN22 is involved in preventing spontaneous T-cell activation by dephosphorylating and inactivating T-cell receptor-associated Csk kinase...
  6. Stene L, Rønningen K, Bjørnvold M, Undlien D, Joner G. An inverse association between history of childhood eczema and subsequent risk of type 1 diabetes that is not likely to be explained by HLA-DQ, PTPN22, or CTLA4 polymorphisms. Pediatr Diabetes. 2010;11:386-93 pubmed publisher
    ..We aimed to directly assess whether HLA-DQ, CTLA4, and PTPN22 genes could explain the putative association between childhood eczema and lower subsequent risk of type 1 diabetes ..
  7. Eliopoulos E, Zervou M, Andreou A, Dimopoulou K, Cosmidis N, Voloudakis G, et al. Association of the PTPN22 R620W polymorphism with increased risk for SLE in the genetically homogeneous population of Crete. Lupus. 2011;20:501-6 pubmed publisher
    ..The functional R620W (C1858T) polymorphism of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, a member of the PTPs that negatively regulate T-cell activation, has been recently associated with ..
  8. Yu X, Chen M, Zhang S, Yu Z, Sun J, Wang L, et al. Substrate specificity of lymphoid-specific tyrosine phosphatase (Lyp) and identification of Src kinase-associated protein of 55 kDa homolog (SKAP-HOM) as a Lyp substrate. J Biol Chem. 2011;286:30526-34 pubmed publisher
    A missense single-nucleotide polymorphism in the gene encoding the lymphoid-specific tyrosine phosphatase (Lyp) has been identified as a causal factor in a wide spectrum of autoimmune diseases...
  9. Liu Y, Stanford S, Jog S, Fiorillo E, Orrú V, Comai L, et al. Regulation of lymphoid tyrosine phosphatase activity: inhibition of the catalytic domain by the proximal interdomain. Biochemistry. 2009;48:7525-32 pubmed publisher
    The lymphoid tyrosine phosphatase LYP, encoded by the PTPN22 gene, recently emerged as a major player and candidate drug target for human autoimmunity...
  10. Arechiga A, Habib T, He Y, Zhang X, Zhang Z, Funk A, et al. Cutting edge: the PTPN22 allelic variant associated with autoimmunity impairs B cell signaling. J Immunol. 2009;182:3343-7 pubmed publisher
    b>PTPN22 is a gene encoding the protein tyrosine phosphatase Lyp. A missense mutation changing residue 1858 from cytosine to thymidine (1858C/T) is associated with multiple autoimmune disorders...
  11. Ikari K, Momohara S, Inoue E, Tomatsu T, Hara M, Yamanaka H, et al. Haplotype analysis revealed no association between the PTPN22 gene and RA in a Japanese population. Rheumatology (Oxford). 2006;45:1345-8 pubmed
    The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene is a member of the PTPs that negatively regulate T-cell activation...
  12. Steck A, Liu S, McFann K, Barriga K, Babu S, Eisenbarth G, et al. Association of the PTPN22/LYP gene with type 1 diabetes. Pediatr Diabetes. 2006;7:274-8 pubmed
    ..verify the association between type 1 diabetes (T1D) and the protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene in non-Hispanic whites (NHWs) and Hispanics from Colorado...
  13. Aarnisalo J, Treszl A, Svec P, Marttila J, Oling V, Simell O, et al. Reduced CD4+T cell activation in children with type 1 diabetes carrying the PTPN22/Lyp 620Trp variant. J Autoimmun. 2008;31:13-21 pubmed publisher
    The 620Trp variant of the LYP protein, encoded by the lymphoid tyrosine phosphatase 22 gene (PTPN22), is associated with autoimmunity. In this study we aimed at characterising the role of this variant on lymphocyte activation...
  14. Lea W, Lee Y. The association between the PTPN22 C1858T polymorphism and systemic lupus erythematosus: a meta-analysis update. Lupus. 2011;20:51-7 pubmed publisher
    The aim of this study was to determine whether the functional protein tyrosine phosphatase nonreceptor 22 (PTPN22) C1858T polymorphism (rs2476601) confers susceptibility to systemic lupus erythematosus (SLE) in ethnically different ..
  15. Harley J, Alarcon Riquelme M, Criswell L, Jacob C, Kimberly R, Moser K, et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet. 2008;40:204-10 pubmed publisher
    ..3 (PXK) and 1q25.1 (rs10798269). We also found evidence for association (P < 1 x 10(-5)) at FCGR2A, PTPN22 and STAT4, regions previously associated with SLE and other autoimmune diseases, as well as at > or =9 other ..
  16. Skorka A, Bednarczuk T, Bar Andziak E, Nauman J, Ploski R. 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;62:679-82 pubmed
    ..Recently, two studies on British Caucasians reported that a single nucleotide polymorphism, 1858 C > T in PTPN22, encoding Arg620Trp in the lymphoid protein tyrosine phosphatase (LYP), which is a negative regulator of T-cell ..
  17. Vang T, Congia M, Macis M, Musumeci L, Orrú V, Zavattari P, et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet. 2005;37:1317-9 pubmed
    A SNP in the gene PTPN22 is associated with type 1 diabetes, rheumatoid arthritis, lupus, Graves thyroiditis, Addison disease and other autoimmune disorders...
  18. Kallberg H, Padyukov L, Plenge R, Ronnelid J, Gregersen P, van der Helm van Mil A, et al. Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis. Am J Hum Genet. 2007;80:867-75 pubmed
    ..of interaction between the two major genetic risk factors of RA--the HLA-DRB1 shared epitope (SE) alleles and the PTPN22 R620W allele--in three large case-control studies: the Swedish Epidemiological Investigation of Rheumatoid ..
  19. Smyth D, Plagnol V, Walker N, Cooper J, Downes K, Yang J, et al. Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med. 2008;359:2767-77 pubmed publisher
    ..Loci with distinct effects in the two diseases included INS on chromosome 11p15, IL2RA on chromosome 10p15, and PTPN22 on chromosome 1p13 in type 1 diabetes and IL12A on 3q25 and LPP on 3q28 in celiac disease...
  20. Petrone A, Suraci C, Capizzi M, Giaccari A, Bosi E, Tiberti C, et al. The protein tyrosine phosphatase nonreceptor 22 (PTPN22) is associated with high GAD antibody titer in latent autoimmune diabetes in adults: Non Insulin Requiring Autoimmune Diabetes (NIRAD) Study 3. Diabetes Care. 2008;31:534-8 pubmed
    ..Protein tyrosine phosphatase nonreceptor type 22 (PTPN22) has been identified as a new susceptibility gene for type 1 diabetes and other autoimmune diseases...
  21. Hermann R, Lipponen K, Kiviniemi M, Kakko T, Veijola R, Simell O, et al. Lymphoid tyrosine phosphatase (LYP/PTPN22) Arg620Trp variant regulates insulin autoimmunity and progression to type 1 diabetes. Diabetologia. 2006;49:1198-208 pubmed
    ..the contribution of the lymphoid protein tyrosine phosphatase (LYP) Arg620Trp variant (which corresponds to the PTPN22 C1858T polymorphism) to the emergence of beta-cell-specific humoral autoimmunity and progression to type 1 ..
  22. Fichna M, Zurawek M, Januszkiewicz Lewandowska D, Fichna P, Nowak J. PTPN22, PDCD1 and CYP27B1 polymorphisms and susceptibility to type 1 diabetes in Polish patients. Int J Immunogenet. 2010;37:367-72 pubmed publisher
    ..This study was aimed to investigate the association of PTPN22?G(-1123)C and C1858T, PDCD1 G7146A and CYP27B1 C(-1260)A polymorphisms with T1DM among Polish subjects...
  23. Lee Y, Bae S, Song G. The association between the functional PTPN22 1858 C/T and MIF -173 C/G polymorphisms and juvenile idiopathic arthritis: a meta-analysis. Inflamm Res. 2012;61:411-5 pubmed publisher
    The aim of this study was to determine whether the protein tyrosine phosphatase nonreceptor 22 (PTPN22) 1858 C/T (rs2476601) and macrophage migration inhibitory factor (MIF) -173 C/G polymorphisms confer susceptibility to juvenile ..
  24. Lie B, Viken M, Odegard S, van der Heijde D, Landewe R, Uhlig T, et al. Associations between the PTPN22 1858C->T polymorphism and radiographic joint destruction in patients with rheumatoid arthritis: results from a 10-year longitudinal study. Ann Rheum Dis. 2007;66:1604-9 pubmed
    To investigate whether the PTPN22 1858T risk variant is associated with the rate of radiographic progression in rheumatoid arthritis (RA)...
  25. Smyth D, Cooper J, Howson J, Walker N, Plagnol V, Stevens H, et al. PTPN22 Trp620 explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes. Diabetes. 2008;57:1730-7 pubmed publisher
    ..nonsynonymous single nucleotide polymorphism (SNP) of protein tyrosine phosphatase; nonreceptor type 22 (PTPN22) on chromosome 1p13 has been confirmed in type 1 diabetes and also in other autoimmune diseases, including ..
  26. Roycroft M, Fichna M, McDonald D, Owen K, Zurawek M, Gryczynska M, et al. The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22) gene predisposes to autoimmune Addison's disease. Clin Endocrinol (Oxf). 2009;70:358-62 pubmed publisher
    ..between autoimmune Addison's disease (AAD) and a nonsynonymous single nucleotide polymorphism (SNP) in the PTPN22 gene (C1858T, pR620W; SNP ID no. rs2476601) have shown conflicting results...
  27. Naseem H, Thomson W, Silman A, Worthington J, Symmons D, Barton A. The PTPN22*C1858T functional polymorphism is associated with susceptibility to inflammatory polyarthritis but neither this nor other variants spanning the gene is associated with disease outcome. Ann Rheum Dis. 2008;67:251-5 pubmed
    The PTPN22 gene has been widely confirmed as a susceptibility gene for rheumatoid arthritis (RA) in populations of Northern European descent...
  28. Bjørnvold M, Undlien D, Joner G, Dahl Jørgensen K, Njølstad P, Akselsen H, et al. Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes. Diabetologia. 2008;51:589-96 pubmed publisher
    HLA, INS, PTPN22 and CTLA4 are considered to be confirmed type 1 diabetes susceptibility genes. HLA, PTPN22 and CTLA4 are known to be involved in immune regulation...
  29. Martin T, Bye L, Modi N, Stanford M, Vaughan R, Smith J, et al. Genotype analysis of polymorphisms in autoimmune susceptibility genes, CTLA-4 and PTPN22, in an acute anterior uveitis cohort. Mol Vis. 2009;15:208-12 pubmed
    ..Protein tyrosine phosphatase type 22 (PTPN22) and Cytotoxic T lymphocyte antigen-4 (CTLA-4) are two of these genes, and single nucleotide polymorphisms (SNPs) ..
  30. Majorczyk E, Pawlik A, Kusnierczyk P. PTPN22 1858C>T polymorphism is strongly associated with rheumatoid arthritis but not with a response to methotrexate therapy. Int Immunopharmacol. 2010;10:1626-9 pubmed publisher
    b>PTPN22 (protein tyrosine phosphatase non-receptor type 22) 1858C>T single-nucleotide polymorphism (SNP) is one of the genetic risk factors of rheumatoid arthritis (RA)...
  31. Butty V, Campbell C, Mathis D, Benoist C. Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1). Diabetes. 2008;57:2348-59 pubmed publisher
    ..Susceptibility alleles at loci expected to influence immunoregulation (PTPN22, CTLA4, and IL2RA) did not differ between progressors and nonprogressors but were elevated in both groups relative ..
  32. Vandiedonck C, Capdevielle C, Giraud M, Krumeich S, Jais J, Eymard B, et al. Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis. Ann Neurol. 2006;59:404-7 pubmed
    Our objective was to investigate a role of the intracellular tyrosine phosphatase PTPN22*R620W variant in autoimmune myasthenia gravis (MG), considering disease heterogeneity...
  33. Nielsen C, Hansen D, Husby S, Lillevang S. Sex-specific association of the human PTPN22 1858T-allele with type 1 diabetes. Int J Immunogenet. 2007;34:469-73 pubmed
    ..healthy blood donors, the present study provides evidence of an isolated association of the disease-associated PTPN22 1858T-allele with T1D to the female sex...
  34. Lee Y, Song G. Meta-analysis of the family-based association between the PTPN22 C1858T polymorphism and type 1 diabetes. Mol Biol Rep. 2013;40:211-5 pubmed publisher
    The aim of this study was to determine whether the functional protein tyrosine phosphatase nonreceptor 22 (PTPN22) C1858T polymorphism (rs2476601) confers susceptibility to type 1 diabetes (T1D)...
  35. Gregersen P. Pathways to gene identification in rheumatoid arthritis: PTPN22 and beyond. Immunol Rev. 2005;204:74-86 pubmed
    ..A functional variant (R620W) of the intracellular protein tyrosine phosphatase N22 (PTPN22) has now been conclusively shown to confer approximately two-fold risk for seropositive RA as well as several ..
  36. Rueda B, Nunez C, Orozco G, López Nevot M, De la Concha E, Martin J, et al. C1858T functional variant of PTPN22 gene is not associated with celiac disease genetic predisposition. Hum Immunol. 2005;66:848-52 pubmed
    ..findings have demonstrated that the single nucleotide polymorphism 1858C-->T located at the P1 motif of the PTPN22 (protein tyrosine phosphatase nonreceptor 22) gene has functional relevance and is associated with a variety of ..
  37. Diaz Gallo L, Gourh P, Broen J, Simeon C, Fonollosa V, Ortego Centeno N, et al. Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis. Ann Rheum Dis. 2011;70:454-62 pubmed publisher
    Two functional single nucleotide polymorphisms (SNP) in the PTPN22 gene (rs24746601 and rs33996649) have been associated with autoimmunity...
  38. Gregorieff A, Cloutier J, Veillette A. Sequence requirements for association of protein-tyrosine phosphatase PEP with the Src homology 3 domain of inhibitory tyrosine protein kinase p50(csk). J Biol Chem. 1998;273:13217-22 pubmed
    ..that the inhibitory tyrosine protein kinase p50(csk) is physically associated with the protein-tyrosine phosphatase PEP in hematopoietic cells...
  39. Cervin C, Lyssenko V, Bakhtadze E, Lindholm E, Nilsson P, Tuomi T, et al. Genetic similarities between latent autoimmune diabetes in adults, type 1 diabetes, and type 2 diabetes. Diabetes. 2008;57:1433-7 pubmed publisher
    ..To accomplish this, we studied whether LADA shares variation in the HLA locus or INS VNTR and PTPN22 genes with type 1 diabetes or the TCF7L2 gene with type 2 diabetes in 361 LADA, 718 type 1 diabetic, and 1,676 ..
  40. Dieude P, Teixeira V, Pierlot C, Cornelis F, Petit Teixeira E. Testing for linkage and association with rheumatoid arthritis a ptpn22 promoter polymorphism reported to be associated and linked with type 1 diabetes in the Caucasian population. Ann Rheum Dis. 2008;67:900-1 pubmed publisher
  41. Chang H, Tai T, Lu B, Iannaccone C, Cernadas M, Weinblatt M, et al. PTPN22.6, a dominant negative isoform of PTPN22 and potential biomarker of rheumatoid arthritis. PLoS ONE. 2012;7:e33067 pubmed publisher
    b>PTPN22 is a tyrosine phosphatase and functions as a damper of TCR signals...
  42. Lefvert A, Zhao Y, Ramanujam R, Yu S, Pirskanen R, Hammarstrom L. PTPN22 R620W promotes production of anti-AChR autoantibodies and IL-2 in myasthenia gravis. J Neuroimmunol. 2008;197:110-3 pubmed publisher
    In order to investigate the potential involvement of PTPN22 R620W in the pathogenesis of myasthenia gravis (MG), we performed a case-control study including 409 Swedish MG patients and 1557 normal controls...
  43. Nistor I, Nair R, Stuart P, Hiremagalore R, Thompson R, Jenisch S, et al. Protein tyrosine phosphatase gene PTPN22 polymorphism in psoriasis: lack of evidence for association. J Invest Dermatol. 2005;125:395-6 pubmed
  44. Hill R, Zozulya S, Lu Y, Ward K, Gishizky M, Jallal B. The lymphoid protein tyrosine phosphatase Lyp interacts with the adaptor molecule Grb2 and functions as a negative regulator of T-cell activation. Exp Hematol. 2002;30:237-44 pubmed
    ..signaling components that associate with the adapter molecule, Grb2, the lymphoid-specific tyrosine phosphatase Lyp was identified...
  45. Curtin K, Wong J, Allen Brady K, Camp N. Meta-genetic association of rheumatoid arthritis and PTPN22 using PedGenie 2.1. BMC Proc. 2007;1 Suppl 1:S12 pubmed
    ..1 meta-association testing of variants in the PTPN22 gene and rheumatoid arthritis across multiple resources containing both family-based and independent individuals...
  46. Sahin N, Aksu K, Kamali S, Bicakcigil M, Ozbalkan Z, Fresko I, et al. PTPN22 gene polymorphism in Takayasu's arteritis. Rheumatology (Oxford). 2008;47:634-5 pubmed publisher
    ..susceptibility to TA has been investigated by screening the functional single nucleotide polymorphism (SNP) of PTPN22 gene encoding the lymphoid-specific protein tyrosine phosphatase...
  47. Carlton V, Hu X, Chokkalingam A, Schrodi S, Brandon R, Alexander H, et al. PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis. Am J Hum Genet. 2005;77:567-81 pubmed
    ..single-nucleotide polymorphism (SNP) (rs2476601) in the hematopoietic-specific protein tyrosine phosphatase gene, PTPN22, has been associated with multiple autoimmune diseases, including rheumatoid arthritis (RA)...
  48. Thomson W, Barton A, Ke X, Eyre S, Hinks A, Bowes J, et al. Rheumatoid arthritis association at 6q23. Nat Genet. 2007;39:1431-3 pubmed
    ..1 x 10(-8)) in a validation study, as described here. This SNP maps to 6q23, between the genes oligodendrocyte lineage transcription factor 3 (OLIG3) and tumor necrosis factor-alpha-induced protein 3 (TNFAIP3). ..
  49. Carr E, Niederer H, Williams J, Harper L, Watts R, Lyons P, et al. Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis. BMC Med Genet. 2009;10:121 pubmed publisher
    ..Across different autoimmune diseases some genes with immunomodulatory roles, such as PTPN22, are frequently associated with multiple diseases, whereas specific HLA associations, such as HLA-B27, tend to be ..
  50. Zhang Q, Hou S, Jiang Z, Du L, Li F, Xiao X, et al. No association of PTPN22 polymorphisms with susceptibility to ocular Behcet's disease in two Chinese Han populations. PLoS ONE. 2012;7:e31230 pubmed publisher
    ..Protein tyrosine phosphatase non-receptor 22 (PTPN22) is a key negative regulator of T lymphocytes and polymorphisms of the PTPN22 gene have been shown to be ..
  51. Kokkonen H, Johansson M, Innala L, Jidell E, Rantapaa Dahlqvist S. The PTPN22 1858C/T polymorphism is associated with anti-cyclic citrullinated peptide antibody-positive early rheumatoid arthritis in northern Sweden. Arthritis Res Ther. 2007;9:R56 pubmed
    The PTPN22 1858C/T polymorphism has been associated with several autoimmune diseases including rheumatoid arthritis (RA)...
  52. Douroudis K, Prans E, Haller K, Nemvalts V, Rajasalu T, Tillmann V, et al. Protein tyrosine phosphatase non-receptor type 22 gene variants at position 1858 are associated with type 1 and type 2 diabetes in Estonian population. Tissue Antigens. 2008;72:425-30 pubmed publisher
    Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is considered an important regulator of T-cell activation. Polymorphisms within the PTPN22 gene have been suggested to confer susceptibility to autoimmune endocrine disorders...
  53. Li Y, Liao W, Chang M, Schrodi S, Bui N, Catanese J, et al. Further genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22. J Invest Dermatol. 2009;129:629-34 pubmed publisher
    ..psoriasis patients and 1,385 control subjects; 3 SNPs, rs597980 in ADAM33, rs6908425 in CDKAL1 and rs3789604 in PTPN22, were significant with the same risk allele as in prior reports (one-sided P<0.05, false discovery rate<0...
  54. Lee A, Li W, Liew A, Bombardier C, Weisman M, Massarotti E, 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;6:129-33 pubmed
    ..arthritis and a coding single-nucleotide polymorphism in the intracellular protein tyrosine phosphatase, PTPN22. The disease-associated polymorphism, 1858 C/T (rs2476601), encodes an amino-acid change (R620W) in one of four ..
  55. Wu H, Cantor R, Graham D, Lingren C, Farwell L, Jager P, 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;52:2396-402 pubmed
    ..T allele (of the C1858T single-nucleotide polymorphism corresponding to the R620W amino acid substitution) of PTPN22 with multiple autoimmune diseases, including systemic lupus erythematosus (SLE)...
  56. Dieude P, Garnier S, Michou L, Petit Teixeira E, Glikmans E, Pierlot C, et al. Rheumatoid arthritis seropositive for the rheumatoid factor is linked to the protein tyrosine phosphatase nonreceptor 22-620W allele. Arthritis Res Ther. 2005;7:R1200-7 pubmed
    The protein tyrosine phosphatase nonreceptor type 22 (PTPN22) gene encodes for lymphoid tyrosine phosphatase LYP, involved in the negative regulation of early T-cell activation...
  57. Lee Y, Rho Y, Choi S, Ji J, Song G, Nath S, et al. The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analysis. Rheumatology (Oxford). 2007;46:49-56 pubmed
    To assess whether combined evidence shows the association between the protein tyrosine phosphatase non-receptor 22 (PTPN22) C1858T polymorphism and autoimmune diseases, and to summarize the effect size of the polymorphism associated with ..
  58. Vang T, Miletic A, Bottini N, Mustelin T. Protein tyrosine phosphatase PTPN22 in human autoimmunity. Autoimmunity. 2007;40:453-61 pubmed
    The discovery that a single-nucleotide polymorphism (SNP) in lymphoid tyrosine phosphatase (LYP), encoded by the PTPN22 gene, is associated with type 1 diabetes (T1D) has now been verified by numerous studies and has been expanded to ..
  59. Wang X, Chen Z, Shao Y, Ma Y, Zhang F, Zhang L, et al. Population-based and family-based studies on the protein tyrosine phosphatase non-receptor 22 gene polymorphism and type 1 diabetes: a meta-analysis. Gene. 2013;517:191-6 pubmed publisher
    Studies investigating the association between PTPN22 gene C1858T polymorphism and type 1 diabetes (T1D) susceptibility among Caucasian population have reported conflicting results...
  60. Habib T, Funk A, Rieck M, Brahmandam A, Dai X, Panigrahi A, et al. Altered B cell homeostasis is associated with type I diabetes and carriers of the PTPN22 allelic variant. J Immunol. 2012;188:487-96 pubmed publisher
    The PTPN22 genetic variant 1858T, encoding Lyp620W, is associated with multiple autoimmune disorders for which the production of autoantibodies is a common feature, suggesting a loss of B cell tolerance...
  61. Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet. 2004;36:337-8 pubmed
    We report that a single-nucleotide polymorphism (SNP) in the gene (PTPN22) encoding the lymphoid protein tyrosine phosphatase (LYP), a suppressor of T-cell activation, is associated with type 1 diabetes mellitus (T1D)...
  62. Huffmeier U, Steffens M, Burkhardt H, Lascorz J, Schürmeier Horst F, Stander M, et al. Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients. J Med Genet. 2006;43:517-22 pubmed
    Variant R620W of protein tyrosine phosphatase non-receptor type 22 (PTPN22) has consistently been reported as a susceptibility factor for several autoimmune diseases...
  63. Morgan A, Thomson W, Martin S, Carter A, Erlich H, Barton A, et al. Reevaluation of the interaction between HLA-DRB1 shared epitope alleles, PTPN22, and smoking in determining susceptibility to autoantibody-positive and autoantibody-negative rheumatoid arthritis in a large UK Caucasian population. Arthritis Rheum. 2009;60:2565-76 pubmed publisher
    To define interactions between the HLA-DRB1 shared epitope (SE), PTPN22, and smoking in cyclic citrullinated peptide (CCP) antibody- and rheumatoid factor (RF)-positive and -negative rheumatoid arthritis (RA)...
  64. Alkhateeb A, Marzouka N, Tashtoush R. Variants in PTPN22 and SMOC2 genes and the risk of thyroid disease in the Jordanian Arab population. Endocrine. 2013;44:702-9 pubmed publisher
    ..The contribution of these genes differs by different populations. The PTPN22 gene is reported to be associated with multiple autoimmune diseases, but results of association are conflicting in ..
  65. Skinningsrud B, Husebye E, Gervin K, Løvås K, Blomhoff A, Wolff A, et al. Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. Eur J Hum Genet. 2008;16:977-82 pubmed publisher
    The tyrosine-protein phosphatase non-receptor type 22 (PTPN22) gene was recently identified as an important genetic susceptibility factor in several autoimmune diseases...
  66. Burn G, Svensson L, Sanchez Blanco C, Saini M, Cope A. Why is PTPN22 a good candidate susceptibility gene for autoimmune disease?. FEBS Lett. 2011;585:3689-98 pubmed publisher
    The PTPN22 locus is one of the strongest risk factors outside of the major histocompatability complex that associates with autoimmune diseases...
  67. Wagenleiter S, Klein W, Griga T, Schmiegel W, Epplen J, Jagiello P. A case-control study of tyrosine phosphatase (PTPN22) confirms the lack of association with Crohn's disease. Int J Immunogenet. 2005;32:323-4 pubmed
    ..Recently, a variation of the intracellular protein tyrosine phosphatase nonreceptor-type 22 (PTPN22) was associated with several autoimmune diseases...
  68. Steer S, Abkevich V, Gutin A, Cordell H, Gendall K, Merriman M, et al. Genomic DNA pooling for whole-genome association scans in complex disease: empirical demonstration of efficacy in rheumatoid arthritis. Genes Immun. 2007;8:57-68 pubmed
    ..of this approach in a WGA scan in rheumatoid arthritis (RA) using the validated human leucocyte antigen (HLA) and PTPN22 associations as test loci...
  69. Hakonarson H, Grant S, Bradfield J, Marchand L, Kim C, Glessner J, et al. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature. 2007;448:591-4 pubmed
  70. Provenzano C, Ricciardi R, Scuderi F, Maiuri M, Maestri M, La Carpia F, et al. PTPN22 and myasthenia gravis: replication in an Italian population and meta-analysis of literature data. Neuromuscul Disord. 2012;22:131-8 pubmed publisher
    Polymorphisms in PTPN22 are associated with many autoimmune diseases; while rs2476601 is supposed to play a major role, other experimental data suggest that rs2488457 may be even more important...
  71. Mori M, Yamada R, Kobayashi K, Kawaida R, Yamamoto K. Ethnic differences in allele frequency of autoimmune-disease-associated SNPs. J Hum Genet. 2005;50:264-6 pubmed
    ..erythematosus (SLE), type 1 diabetes mellitus (T1D), and RA; and protein tyrosine phosphatase nonreceptor type 22 (PTPN22) in T1D, RA, and SLE...
  72. Totaro M, Tolusso B, Napolioni V, Faustini F, Canestri S, Mannocci A, et al. PTPN22 1858C>T polymorphism distribution in Europe and association with rheumatoid arthritis: case-control study and meta-analysis. PLoS ONE. 2011;6:e24292 pubmed publisher
    The PTPN22 rs2476601 polymorphism is associated with rheumatoid arthritis (RA); nonetheless, the association is weaker or absent in some southern European populations...
  73. Tang S, Peng W, Wang C, Tang H, Zhang Q. Association of the PTPN22 gene (+1858C/T, -1123G/C) polymorphisms with type 1 diabetes mellitus: a systematic review and meta-analysis. Diabetes Res Clin Pract. 2012;97:446-52 pubmed publisher
    A meta-analysis was conducted to evaluate the association of PTPN22 gene (+1858C/T -1123G/C) polymorphism with T1DM susceptibility. Electronic databases were used to identify published studies before September 2011...
  74. Johansson M, Arlestig L, Hallmans G, Rantapaa Dahlqvist S. PTPN22 polymorphism and anti-cyclic citrullinated peptide antibodies in combination strongly predicts future onset of rheumatoid arthritis and has a specificity of 100% for the disease. Arthritis Res Ther. 2006;8:R19 pubmed
    We analysed relationships between the PTPN22 1858 polymorphism and antibodies to cyclic citrullinated peptide (CCP), rheumatoid factors (RFs) and the shared epitope (SE) gene (HLA-DRB1*0404 or 0401) and determined their combined ..
  75. Chelala C, Duchatelet S, Joffret M, Bergholdt R, Dubois Laforgue D, Ghandil P, et al. PTPN22 R620W functional variant in type 1 diabetes and autoimmunity related traits. Diabetes. 2007;56:522-6 pubmed
    The PTPN22 gene, encoding the lymphoid-specific protein tyrosine phosphatase, a negative regulator in the T-cell activation and development, has been associated with the susceptibility to several autoimmune diseases, including type 1 ..
  76. Lamsyah H, Rueda B, Baassi L, Elaouad R, Bottini N, Sadki K, et al. Association of PTPN22 gene functional variants with development of pulmonary tuberculosis in Moroccan population. Tissue Antigens. 2009;74:228-32 pubmed publisher
    ..Previous studies showed that several genes may play crucial roles in susceptibility to TB. The PTPN22 gene encodes the lymphoid tyrosine phosphatase that has an important regulatory effect on T- and B-cell activation ..
  77. Pradhan V, Borse V, Ghosh K. PTPN22 gene polymorphisms in autoimmune diseases with special reference to systemic lupus erythematosus disease susceptibility. J Postgrad Med. 2010;56:239-42 pubmed publisher
    ..Recently, protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene, has been found to be associated with several autoimmune diseases like SLE, Grave's disease and Hashimoto ..
  78. Aksoy R, Duman T, Keskin O, Duzgun N. No association of PTPN22 R620W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus. Mol Biol Rep. 2011;38:5393-6 pubmed publisher
    ..The polymorphism of the protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene, which encodes an important negative regulator of T cell activation, has been reported to be associated with ..
  79. Wipff J, Allanore Y, Kahan A, Meyer O, Mouthon L, Guillevin L, 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;65:1230-2 pubmed
    The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been reported to be associated with multiple autoimmune diseases, including type ..
  80. Brand O, Gough S, Heward J. HLA , CTLA-4 and PTPN22 : the shared genetic master-key to autoimmunity?. Expert Rev Mol Med. 2005;7:1-15 pubmed
    ..on chromosome 6p21, the gene encoding cytotoxic T lymphocyte-associated 4 (CTLA-4) on chromosome 2q33, and the PTPN22 gene encoding lymphoid tyrosine phosphatase (LYP) on chromosome 1p13...
  81. Kawasaki E, Awata T, Ikegami H, Kobayashi T, Maruyama T, Nakanishi K, 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;140:586-93 pubmed
    The protein tyrosine phosphatase, nonreceptor 22 gene (PTPN22) maps to human chromosome 1p13.3-p13.1 and encodes an important negative regulator of T-cell activation, lymphoid-specific phosphatase (Lyp)...
  82. Michou L, Lasbleiz S, Rat A, Migliorini P, Balsa A, Westhovens R, et al. Linkage proof for PTPN22, a rheumatoid arthritis susceptibility gene and a human autoimmunity gene. Proc Natl Acad Sci U S A. 2007;104:1649-54 pubmed
    The tyrosine phosphatase PTPN22 allele 1858T has been associated with rheumatoid arthritis (RA) and other autoimmune diseases. RA is the most frequent of those multifactorial diseases...
  83. Rieck M, Arechiga A, Onengut Gumuscu S, Greenbaum C, Concannon P, Buckner J. Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes. J Immunol. 2007;179:4704-10 pubmed
    A variant of the PTPN22 gene, 1858C/T, is associated with an increased risk for the development of a wide array of autoimmune disorders...
  84. Gomes F, Bianco B, Teles J, Christofolini D, de Souza A, Guedes A, et al. PTPN22 C1858T polymorphism in women with endometriosis. Am J Reprod Immunol. 2010;63:227-32 pubmed publisher
    Endometriosis has been suggested to be an autoimmune disease and recently, an allelic variation of the PTPN22 (C1858T) gene was revealed to be associated with the development of autoimmunity...
  85. Ates A, Karaaslan Y, Karatayli E, Ertugrul E, Aksaray S, Turkyilmaz A, et al. Association of the PTPN22 gene polymorphism with autoantibody positivity in Turkish rheumatoid arthritis patients. Tissue Antigens. 2011;78:56-9 pubmed publisher
    The PTPN22 C1858T gene polymorphism has been recently reported to be associated with rheumatoid arthritis (RA) in European and North American ancestry...
  86. Bottini N, Vang T, Cucca F, Mustelin T. Role of PTPN22 in type 1 diabetes and other autoimmune diseases. Semin Immunol. 2006;18:207-13 pubmed
    ..discovered that a single-nucleotide polymorphism (SNP) in the lymphoid tyrosine phosphatase (LYP), encoded by the PTPN22 gene on chromosome 1p13, correlates strongly with the incidence of type 1 diabetes (T1D) in two independent ..
  87. Smyth D, Cooper J, Collins J, Heward J, Franklyn J, Howson J, 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;53:3020-3 pubmed
    ..Recently, it has been reported that a single nucleotide polymorphism (SNP), 1858C>T, in the gene PTPN22, encoding Arg620Trp in the lymphoid protein tyrosine phosphatase (LYP), which has been shown to be a negative ..
  88. Ittah M, Gottenberg J, Proust A, Hachulla E, Puechal X, Loiseau P, et al. No evidence for association between 1858 C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjögren's syndrome. Genes Immun. 2005;6:457-8 pubmed
    ..Recently, 1858 C/T polymorphism of PTPN22 gene was reported to predispose to these autoimmune diseases...
  89. Todd J, Walker N, Cooper J, Smyth D, Downes K, Plagnol V, et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet. 2007;39:857-64 pubmed
    ..Several regions, including 18q22 and 18p11, showed association with autoimmune thyroid disease. This study increases the number of T1D loci with compelling evidence from six to at least ten. ..
  90. Chuang W, Strobel P, Belharazem D, Rieckmann P, Toyka K, Nix W, et al. The PTPN22gain-of-function+1858T(+) genotypes correlate with low IL-2 expression in thymomas and predispose to myasthenia gravis. Genes Immun. 2009;10:667-72 pubmed publisher
    Protein tyrosine phosphatase, non-receptor type 22 (PTPN22) inhibits T-cell activation and interleukin-2 (IL-2) production...
  91. Ban Y, Tozaki T, Taniyama M, Nakano Y, Ban Y, Ban Y, et al. Association of the protein tyrosine phosphatase nonreceptor 22 haplotypes with autoimmune thyroid disease in the Japanese population. Thyroid. 2010;20:893-9 pubmed publisher
    A missence single-nucleotide polymorphism (SNP) in the protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene known as R620W (rs2476601) was recently reported to be associated with several autoimmune diseases including Graves' disease (..