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Zur Bedeutung der Genvariante PTPN22 620W für die Rheumatologie

Relevance of the gene variant PTPN22 620W for rheumatology

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Zusammenfassung

PTPN22 620W gilt als zweitwichtigster genetischer Risikofaktor für Typ-1-Diabetes und rheumatoide Arthritis. Die Molekularbiologie des Enzyms, die geographische Verbreitung der Variante und ihre Bedeutung auch für seltenere rheumatische Erkrankungen werden beschrieben.

Abstract

PTPN22 620W is regarded as the second most important risk factor for type 1 diabetes and rheumatoid arthritis. Here we describe aspects of the molecular biology of the enzyme and its function, the geographical distribution of the 620W variant, as well as its importance in less frequent rheumatic diseases.

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Literatur

  1. Begovitch AB, Carlton VEH, Honigberg LA et al. (2004) A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 75: 330–337

    Article  Google Scholar 

  2. Bottini N, Musumeci L, Alonso A et al. (2004) A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 36: 337–338

    Article  PubMed  CAS  Google Scholar 

  3. Criswell LA, Pfeiffer KA, Lum RF et al. (2005) 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: 561–571

    Article  PubMed  CAS  Google Scholar 

  4. Vang T, Miletic AV, Arimura Y et al. (2008) Protein tyrosine phosphatases in autoimmunity. Ann Rev Immunol 26: 29–55

    Article  CAS  Google Scholar 

  5. Hasegawa K, Martin F, Huang G et al. (2004) PEST-domain enriched tyrosine phosphatase (PEP) regulation of effector/memory T cells. Science 303: 685–689

    Article  PubMed  CAS  Google Scholar 

  6. Vang T, Congia M, Macis MD et al. (2005) Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 37: 1317–1319

    Article  PubMed  CAS  Google Scholar 

  7. Gourh P, Tan FK, Assassi S et al. (2006) Association of the PTPN22 R620W polymorphism with anti-topoisomerase I- and anticentromere antibody-positive systemic sclerosis. Arthritis Rheum 54: 3945–3953

    Article  PubMed  CAS  Google Scholar 

  8. Källberg H, Padyukov L, Plenge RM et al. (2007) Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22 and smoking in two subsets of rheumatoid arthritis. Am J Hum Genet 80: 867–875

    Article  PubMed  Google Scholar 

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Förderung: BMBF 01 GM 0310/0634.

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Correspondence to I. Melchers.

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Melchers, I., Ahnert, P. Zur Bedeutung der Genvariante PTPN22 620W für die Rheumatologie. Z. Rheumatol. 67, 593–595 (2008). https://doi.org/10.1007/s00393-008-0381-7

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  • DOI: https://doi.org/10.1007/s00393-008-0381-7

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