The role of PTPN22 gene polymorphism in childhood immune thrombocytopenic purpura

Blood Coagulation and Fibrinolysis

Volumn 22, Issue 6, 2011, Pages 521-525

  Anis, Shahira K ^a   Abdel Ghany, Eman A ^a   Mostafa, Naglaa O ^a   Ali, Aliaa A ^a  

^a CAIRO UNIVERSITY   (Egypt)

Author keywords

childhood immune thrombocytopenic purpura; PTPN22 gene; single nucleotide polymorphism

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE; THROMBOCYTE ANTIBODY;

ACUTE DISEASE; ARTICLE; CHILD; CHILDHOOD DISEASE; CHRONIC DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; HETEROZYGOSITY; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

ACUTE DISEASE; ADOLESCENT; ALLELES; AUTOANTIBODIES; BLOOD PLATELETS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHRONIC DISEASE; DNA MUTATIONAL ANALYSIS; EGYPT; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 22; PURPURA, THROMBOCYTOPENIC, IDIOPATHIC; RISK FACTORS; T-LYMPHOCYTES;

EID: 80052097666     PISSN: 09575235     EISSN: 14735733     Source Type: Journal    
DOI: 10.1097/MBC.0b013e328347b064     Document Type: Article

References (24)

1. Cines DP, Blanchette VS. Immune thrombocytopenic purpura. N Engl J Med 2002; 346:995-1008.
2. Zhou B, Zhao H, Yang RC, Han ZC. Multidysfunctional pathophysiology in ITP. Crit Rev Oncol Hematol 2005; 54:107-116.
3. Psaila B, Bussel JB. Immune thrombocytopenic purpura. Hematol Oncol Clin N Am 2007; 21:743-759. (Pubitemid 47102561)
4. Blanchette B, Bolton-Maggs P. Childhood immune thrombocytopenic purpura: diagnosis and management. Pediatr Clin N Am 2008; 55:393-420. (Pubitemid 351442783)
5. Cohen S, Dadi H, Shaoul EN, Sharfe N, Roifman CM. Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. Blood 1999; 93:2013-2024. (Pubitemid 29128504)
6. Mustelin T, Vang T, Bottini N. Protein tyrosine phosphatases and the immune response. Nat Rev Immunol 2005; 5:43-57. (Pubitemid 40070330)
7. Arechiga AF, Habib T, He Y, Zhang X, Zhang ZY, Funk A, et al. Cutting edge: the PTPN22 allelic variant associated with autoimmunity impairs B cell signaling. J Immunol 2009; 182:3343-3347.
8. Bottini N, Musumeci L,Alonso A, Rahmouni S, Nika K, RostamkhaniM,et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004; 36:337-338. (Pubitemid 38437254)
9. Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, 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; 75:330-337. (Pubitemid 38943877)
10. Viken MK, Amundsen SS, Kvien TK, Boberg KM, Gilboe IM, 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 2005; 6:271-273. (Pubitemid 40645573)
11. Kyogoku C,Langefeld CD, Ortmann WA, Lee A, SelbyS, Carlton VEH,et al. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 2004; 75:504-507. (Pubitemid 39095825)
12. Skorka A, Bednarczuk T, Bar-Andziak E, Nauman J, Rafal P. 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; 62:679-682. (Pubitemid 40825937)
13. Canton I, Akhtar S, Gavalas NG, Gawkrodger DJ, Blomhoff A, Watson PF, et al. A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalized vitiligo. Genes Immun 2005; 6:584-587. (Pubitemid 41637665)
14. Zheng W, She JX. Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes. Diabetes 2005; 54:906-908. (Pubitemid 40322097)
15. Semple JW. Infections, antigen-presenting cells, T cells, and immune tolerance: their role in the pathogenesis of immune thrombocytopenia. Hematol Oncol Clin N Am 2009; 23:1177-1192.
16. Rodeghiero F, Stasi R, Gernsheimer T, Michel M, Proven D, Arnold DM, 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; 113:2386-2393.
17. World Medical Association. Declaration of Helsinki. Ethical principles for medical research involving human subjects. The 59th WMA General Assembly, 2008, Seoul, South Korea.
18. Von dem Borne AE, Verheugt FW, Oosterhof F, von Riesz E, de la Rivière AB, Engelfriet CP. A simple immunofluorescence test for the detection of platelet antibodies. Br J Haematol, 1978; 39: 195-220.
19. D'Silva KJ, Zamora MB, Gerlach J, Schwartz KA. Increased representation of the PTPN22 mutation in patients with immune thrombocytopenia. J Thromb Haemost 2010. [Epub ahead of print]
20. Vangi T, Miltci A, Bottini N, Mustilin T. Protein tyrosine phosphatase PTPN22 in human autoimmunity. Autoimmunity 2007; 40:453-461. (Pubitemid 47343357)
21. Encinas JA, Kuchroo VK. Mapping and identification of autoimmunity genes. Curr Opin Immunol 2000; 12:691-697.
22. Concannon P, Erlich HA, Julier C, Morahan G, Nerup J, Pociot F, et al. Type 1 diabetes genetics consortium. Type 1 diabetes: evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families. Diabetes 2005; 54:2995-3001. (Pubitemid 41401098)
23. Xie Y, Liu Y, Gong G, Rinderspacher A, Deng SX, Smith DH, et al. Discovery of a novel submicromolar inhibitor of the lymphoid specific tyrosine phosphatase. Bioorg Med Chem Lett 2008; 18:2840-2844. (Pubitemid 351608878)
24. Wu S, Bottini M, Rickert RC, Mustelin T, Tautz L. In silico screening for PTPN22 inhibitors: active hits from an inactive phosphatase conformation. Chem Med Chem 2009; 4:440-444.