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.
Literatur
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Förderung: BMBF 01 GM 0310/0634.
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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
Schlüsselwörter
- Autoimmunerkrankung
- Genetisches Risiko
- T-Zell-Aktivierung
- Signaltransduktion
- Protein-Tyrosin-Phosphatase