Increased representation of the PTPN22 mutation in patients with immune thrombocytopenia

Journal of Thrombosis and Haemostasis

Volumn 8, Issue 9, 2010, Pages 2076-2078

  D'Silva, K J ^a   Zamora, M B ^b   Gerlach, J ^b   Schwartz, K A ^a  

^a MICHIGAN STATE UNIVERSITY   (United States)

^b MICHIGAN STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; IMMUNOGLOBULIN G; PROTEIN TYROSINE PHOSPHATASE; T LYMPHOCYTE RECEPTOR; THROMBOCYTE ANTIBODY; TYROSINE;

ADULT; AGED; CLINICAL ARTICLE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC PREDISPOSITION; GENOTYPE; GRAVES DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; IMMUNE THROMBOCYTOPENIA; IMMUNOPATHOLOGY; INSULIN DEPENDENT DIABETES MELLITUS; LETTER; MALE; PRIORITY JOURNAL; RACE; RHEUMATOID ARTHRITIS; SEX RATIO; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS; T LYMPHOCYTE; THROMBOCYTOPENIA; THYMUS;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; BLOOD PLATELETS; ETHNIC GROUPS; FEMALE; GENE EXPRESSION REGULATION; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 22; SIGNAL TRANSDUCTION; THROMBOCYTOPENIA;

EID: 77956480474     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2010.03954.x     Document Type: Letter

References (19)

1. Laster AJ, Conley CL, Kickler T, Dorsch CA, Bias W. Chronic immune thrombocytopenic purpura in monozygotic twins. N Engl J Med 1982, 307:1495-8.
2. Bizzaro N. Familial association of autoimmune thrombocytopenia and hyperthyroidism. Am J Hematol 1992, 39:294-8.
3. Gregersen PK, Lee H-S, Batliwalla F, Begovich AB. PTPN22: setting thresholds for autoimmunity. Semin Immunol 2006, 18:214-23.
4. Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VEH, Chang M, Ramos P, Baechler EC, Batliwalla F, 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.
5. Bottini N, Musumeci L, Alonso A, Rahmouni S, Konstantina N, 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.
6. Smyth D, Cooper JD, Collins JE, Heward JM, Franklin JA, Howson JMM, Vella A, Nutland S, Rance HE, Maier L, Barratt BJ, Guja C, Ionescu-Tirgoviste C, Savage DA, Dunger DB, Widmer B, Strachan DP, Ring SM, Walker N, Clayton DG. 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.
7. Begovich AB, Carlton VEH, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith QM, Spoerke JM, Conn MT, Chang M, Chang S-YP, Saiki RK, Cantanese JJ, Leong DU, Garcia VE, McAllister LB, Jeffery DA, Lee AT. 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.
8. Rodeghiero F, Stasi R, Gernsheimer T, Michel M, Provan D, Arnold DM, Bussel JB, Cines DB, Chong BH, Cooper N, Godeau B, Lechner K, Mazzucconi MG, McMillan R, Sanz MA, Imbach P, Blanchette V, Kuhne T, Ruggeri M, George JN. Standardization of terminology, definitions and outcome criteria in immune thrombocytopenia purpura of adults and children: report form an international working group. Blood 2009, 113:2386-93.
9. Lee A, Li N, Liew A, Bombardier C, Weisman M, Massarotti EM, Kent J, Wolfe F, Bergovich A. 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.
10. Schwartz KA, Gauger JA, Davis JM. Precise quantitation of PAIgG: a new radiometric microtechnique. Am J Hematol 1990, 33:167-76.
11. Vang T, Miletic AV, Bottini N, Mustelin T. Protein tyrosine phosphatase PTPN22 in human autoimmunity. Autoimmunity 2007, 40:453-61.
12. Semple JW. Infections, antigen-prestenting cells, T cells, and immune tolerance: their role in the pathogenesis of immune thrombocytopenia. Hematol Oncol Clin North Am 2009, 23:1177-92.
13. Orozco G, Sanchez E, Gonzalez-Gay MA, Lopez-Novot MA, Torres B, Caliz R, Ortego-Centeno N, Jimenez-Alonso J, Pascual-Salcedo D, Balsa A, de Pablo R, Nunez-Roldan A, Gonzales-Escribano MF, Martin J. Association of a functional single-nucleotide polymorphism of PTPN, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosis. Arthritis Rheum 2005, 52:219-24.
14. Hinks A, Barton A, John S, Bruce I, Hawkins C, Griffiths CEM, Donn R, Thomson W, Silman A, Worthington J. Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population. Arthritis Rheum 2005, 52:1694-9.
15. Zhernakova A, Eerligh P, Wijmenga C, Barrera P, Roep BO, Koeleman B. Differential association of the PTPN22 coding variant with autoimmune diseases in a Dutch population. Genes Immun 2005, 6:459-61.
16. Zheng W, She J-X. Genetic association between a lymphoid tyrosine phophatase (PTPN22) and Type 1 diabetes. Diabetes 2005, 54:906-8.
17. Reddy LPM, Johansson M, Sturfelt G, Jonsen A, Gunnarsson I, Svenungsson E, Rantapaa-Dahlqvist S, Alarcon-Riquelme M. The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1. Genes Immun 2005, 6:658-62.
18. Skorka A, Bednarczuk T, Bar-Andziak E, Nauman J, Ploski R. Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves's disease in a Polish population: association and gene dose-dependent correlatation with the age of onset. Clin Endocrinol 2005, 62:679-82.
19. Velaga M, Wilson V, Jennings C, Owens C, Herington S, Donaldson P, Ball S, James R, Quinton R, Perros P, Pearce S. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves Disease. J Clin Endocrinol Metab 2004, 89:5862-5.