PTPN22: Setting thresholds for autoimmunity

Seminars in Immunology

Volumn 18, Issue 4, 2006, Pages 214-223

  Gregersen, Peter K ^a   Lee, Hye Soon ^a   Batliwalla, Franak ^a   Begovich, Ann B ^b  

^a FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

^b CELERA   (United States)

Author keywords

Genetics; Phosphatase; Rheumatoid arthritis

Indexed keywords

PROTEIN PTPN22; PROTEIN TYROSINE PHOSPHATASE; T LYMPHOCYTE RECEPTOR; UNCLASSIFIED DRUG;

ALLELE; AUTOIMMUNE DISEASE; AUTOIMMUNITY; B LYMPHOCYTE; BIOCHEMISTRY; CELL TYPE; DISEASE MODEL; ENZYME ACTIVITY; ETHNIC DIFFERENCE; ETHNIC GROUP; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC RISK; GENETIC VARIABILITY; HUMAN; HUMORAL IMMUNITY; IMMUNOLOGICAL TOLERANCE; IMMUNOPATHOLOGY; IMMUNOREGULATION; NONHUMAN; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVIEW; RISK FACTOR; SIGNAL TRANSDUCTION;

ALLELES; ANIMALS; AUTOIMMUNE DISEASES; GENETIC VARIATION; HUMANS; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 22; PROTEIN TYROSINE PHOSPHATASES; PROTEIN-TYROSINE-PHOSPHATASE; RECEPTORS, ANTIGEN, T-CELL; SIGNAL TRANSDUCTION; T-LYMPHOCYTES; VARIATION (GENETICS);

EID: 33745174905     PISSN: 10445323     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.smim.2006.03.009     Document Type: Review

References (62)

1. 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 36 (2004) 337-338
2. Jawaheer D., Seldin M.F., Amos C.I., Chen W.V., Shigeta R., Etzel C., et al. Screening the genome for rheumatoid arthritis susceptibility genes: a replication study and combined analysis of 512 multicase families. Arthritis Rheum 48 (2003) 906-916
3. Begovich A.B., Carlton V.E., Honigberg L.A., Schrodi S.J., Chokkalingam A.P., Alexander H.C., 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 75 (2004) 330-337
4. Velaga M.R., Wilson V., Jennings C.E., Owen C.J., Herington S., Donaldson P.T., 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 89 (2004) 5862-5865
5. Smyth D., Cooper J.D., Collins J.E., Heward J.M., Franklyn J.A., Howson J.M., 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 53 (2004) 3020-3023
6. Skorka A., Bednarczuk T., Bar-Andziak E., Nauman J., and 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) 62 (2005) 679-682
7. Vandiedonck C., Capdevielle C., Giraud M., Krumeich S., Jais J.P., Eymard B., et al. Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis. Ann Neurol 59 (2006) 404-407
8. Begovich A.B., Caillier S.J., Alexander H.C., Penko J.M., Hauser S.L., Barcellos L.F., et al. The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis. Am J Hum Genet 76 (2005) 184-187
9. Matesanz F., Rueda B., Orozco G., Fernandez O., Leyva L., Alcina A., et al. Protein tyrosine phosphatase gene (PTPN22) polymorphism in multiple sclerosis. J Neurol 252 (2005) 994-995
10. De Jager P.L., Sawcer S., Waliszewska A., Farwell L., Wild G., Cohen 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 14 (2006) 317-321
11. van Oene M., Wintle R.F., 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 52 (1993-) 8
12. Zhernakova A., Eerligh P., Wijmenga C., Barrera P., Roep B.O., and Koeleman B.P. Differential association of the PTPN22 coding variant with autoimmune diseases in a Dutch population. Genes Immun 6 (2005) 459-461
13. Martin M.C., Oliver J., Urcelay E., Orozco G., Gomez-Garcia M., Lopez-Nevot M.A., et al. The functional genetic variation in the PTPN22 gene has a negligible effect on the susceptibility to develop inflammatory bowel disease. Tissue Antigens 66 (2005) 314-317
14. Prescott N.J., Fisher S.A., Onnie C., Pattni R., Steer S., Sanderson J., et al. A general autoimmunity gene (PTPN22) is not associated with inflammatory bowel disease in a British population. Tissue Antigens 66 (2005) 318-320
15. Hinks A., Barton A., John S., Bruce I., Hawkins C., Griffiths C.E., 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 52 (2005) 1694-1699
16. Canton I., Akhtar S., Gavalas N.G., Gawkrodger D.J., Blomhoff A., Watson P.F., et al. A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo. Genes Immun 6 (2005) 584-587
17. Kahles H., Ramos-Lopez E., Lange B., Zwermann O., Reincke M., and Badenhoop K. 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 153 (2005) 895-899
18. Seldin M.F., Shigeta R., Laiho K., Li H., Saila H., Savolainen A., 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 6 (2005) 720-722
19. Kyogoku C., Langefeld C.D., Ortmann W.A., Lee A., Selby S., Carlton V.E., et al. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 75 (2004) 504-507
20. Orozco G., Sanchez E., Gonzalez-Gay M.A., Lopez-Nevot M.A., Torres B., Caliz R., et al. Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum 52 (2005) 219-224
21. Gomez L.M., Anaya J.M., Gonzalez C.I., Pineda-Tamayo R., Otero W., Arango A., et al. PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases. Genes Immun 6 (2005) 628-631
22. Reddy M.V., Johansson M., Sturfelt G., Jonsen A., Gunnarsson I., Svenungsson E., et al. The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1. Genes Immun 6 (2005) 658-662
23. Wu H., Cantor R.M., Graham D.S., Lingren C.M., Farwell L., Jager P.L., 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 52 (2005) 2396-2402
24. Kuhn K.A., Kulik L., Arend W.P., and Holers V.M. Antibodies to citrulline modified proteins enhance tissue injury in inflammatory arthritis. Arthritis Rheum 52 (2005) S360
25. Lin J.P., Cash J.M., Doyle S.Z., Peden S., Kanik K., Amos C.I., et al. Familial clustering of rheumatoid arthritis with other autoimmune diseases. Hum Genet 103 (1998) 475-482
26. Criswell L.A., Pfeiffer K.A., Lum R.F., Gonzales B., Novitzke J., Kern M., 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 76 (2005) 561-571
27. Zheng W., and She J.X. Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes. Diabetes 54 (2005) 906-908
28. Mori M., Yamada R., Kobayashi K., Kawaida R., and Yamamoto K. Ethnic differences in allele frequency of autoimmune-disease-associated SNPs. J Hum Genet (2005)
29. 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 140 (2006) 586-593
30. Carlton V.E., Hu X., Chokkalingam A.P., Schrodi S.J., Brandon R., Alexander H.C., et al. PTPN22 Genetic Variation: evidence for multiple variants associated with rheumatoid arthritis. Am J Hum Genet 77 (2005) 567-581
31. Mustelin T., Alonso A., Bottini N., Huynh H., Rahmouni S., Nika K., et al. Protein tyrosine phosphatases in T cell physiology. Mol Immunol 41 (2004) 687-700
32. Mustelin T., Vang T., and Bottini N. Protein tyrosine phosphatases and the immune response. Nat Rev Immunol 5 (2005) 43-57
33. Hasegawa K., Martin F., Huang G., Tumas D., Diehl L., and Chan A.C. PEST domain-enriched tyrosine phosphatase (PEP) regulation of effector/memory T cells. Science 303 (2004) 685-689
34. Wu J., Katrekar A., Honigberg L.A., Smith A.M., Conn M.T., Tang J., et al. Identification of substrates of human protein tyrosine phosphatase PTPN22. J Biol Chem (2006)
35. Vang T., Congia M., Macis M.D., Musumeci L., Orru V., Zavattari P., et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 37 (2005) 1317-1319
36. Kappler J.W., Roehm N., and Marrack P. T cell tolerance by clonal elimination in the thymus. Cell 49 (1987) 273-280
37. Liston A., Lesage S., Gray D.H., Boyd R.L., and Goodnow C.C. Genetic lesions in T-cell tolerance and thresholds for autoimmunity. Immunol Rev 204 (2005) 87-101
38. Ulmanen I., Halonen M., Ilmarinen T., and Peltonen L. Monogenic autoimmune diseases-lessons of self-tolerance. Curr Opin Immunol 17 (2005) 609-615
39. Liston A., Gray D.H., Lesage S., Fletcher A.L., Wilson J., Webster K.E., et al. Gene dosage-limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity. J Exp Med 200 (2004) 1015-1026
40. Liston A., Lesage S., Gray D.H., O'Reilly L.A., Strasser A., Fahrer A.M., et al. Generalized resistance to thymic deletion in the NOD mouse; a polygenic trait characterized by defective induction of Bim. Immunity 21 (2004) 817-830
41. Sakaguchi N., Takahashi T., Hata H., Nomura T., Tagami T., Yamazaki S., et al. Altered thymic T-cell selection due to a mutation of the ZAP-70 gene causes autoimmune arthritis in mice. Nature 426 (2003) 454-460
42. Sakaguchi S., and Sakaguchi N. Animal models of arthritis caused by systemic alteration of the immune system. Curr Opin Immunol 17 (2005) 589-594
43. Sakaguchi S. Naturally arising Foxp3-expressing CD25+CD4+ regulatory T cells in immunological tolerance to self and non-self. Nat Immunol 6 (2005) 345-352
44. Cohen S., Dadi H., Shaoul E., Sharfe N., and Roifman C.M. Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase. Lyp Blood 93 (1999) 2013-2024
45. Viken M.K., Amundsen S.S., Kvien T.K., Boberg K.M., Gilboe I.M., Lilleby V., et al. Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases. Genes Immun 6 (2005) 271-273
46. Wesoly J., van der Helm-van Mil A.H., Toes R.E., Chokkalingam A.P., Carlton V.E., Begovich A.B., et al. Association of the PTPN22 C1858T single-nucleotide polymorphism with rheumatoid arthritis phenotypes in an inception cohort. Arthritis Rheum 52 (2005) 2948-2950
47. Ittah M., Gottenberg J.E., Proust A., Hachulla E., Puechal X., Loiseau P., et al. No evidence for association between 1858C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjogren's syndrome. Genes Immun 6 (2005) 457-458
48. Lee A.T., Li W., Liew A., Bombardier C., Weisman M., Massarotti E.M., 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 6 (2005) 129-133
49. Steer S., Lad B., Grumley J.A., Kingsley G.H., and Fisher S.A. Association of R602W in a protein tyrosine phosphatase gene with a high risk of rheumatoid arthritis in a British population: evidence for an early onset/disease severity effect. Arthritis Rheum 52 (2005) 358-360
50. Plenge R.M., Padyukov L., Remmers E.F., Purcell S., Lee A.T., Karlson E.W., 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 77 (2005) 1044-1060
51. Harrison P., Pointon J.J., Farrar C., Brown M.A., and Wordsworth B.P. Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients. Rheumatology (Oxford) (2006)
52. Simkins H.M., Merriman M.E., Highton J., Chapman P.T., O'Donnell J.L., Jones P.B., et al. Association of the PTPN22 locus with rheumatoid arthritis in a New Zealand Caucasian cohort. Arthritis Rheum 52 (2005) 2222-2225
53. Jagiello P., Aries P., Arning L., Wagenleiter S.E., Csernok E., Hellmich B., et al. The PTPN22 620W allele is a risk factor for Wegener's granulomatosis. Arthritis Rheum 52 (2005) 4039-4043
54. 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)
55. Huffmeier U., Reis A., Steffens M., Lascorz J., Bohm B., Lohmann J., et al. Male restricted genetic association of variant R620W in PTPN22 with psoriatic arthritis. J Invest Dermatol (2006)
56. Huffmeier U., Steffens M., Burkhardt H., Lascorz J., Schurmeier-Horst F., Stander M., et al. Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients. J Med Genet (2005)
57. Rueda B., Nunez C., Orozco G., Lopez-Nevot M.A., de la Concha E.G., Martin J., et al. C1858T functional variant of PTPN22 gene is not associated with celiac disease genetic predisposition. Hum Immunol 66 (2005) 848-852
58. 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 7 (2005) R1200-R1207
59. Nistor I., Nair R.P., Stuart P., Hiremagalore R., Thompson R.A., Jenisch S., et al. Protein tyrosine phosphatase gene PTPN22 polymorphism in psoriasis: lack of evidence for association. J Invest Dermatol 125 (2005) 395-396
60. Ladner M.B., Bottini N., Valdes A.M., and Noble J.A. Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with type 1 diabetes. Hum Immunol 66 (2005) 60-64
61. Qu H., Tessier M.C., Hudson T.J., and Polychronakos C. Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study. J Med Genet 42 (2005) 266-270
62. Onengut-Gumuscu S., Ewens K.G., Spielman R.S., and Concannon P. A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families. Genes Immun 5 (2004) 678-680