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Bedeutung von Polymorphismen für venöse und arterielle Thrombosen

Prädiktiver Nutzen der häufig untersuchten Polymorphismen GP Ia C807T, GP IIIa T1565C, PAI-1 675 4G/5G und MTHFR C677T

Significance of polymorphisms for arterial or venous thromboembolic risk

Predictive use of frequently determined polymorphisms GP Ia C807T, GP IIIa T1565C, PAI-1 675 4G/5G, and MTHFR C677T

Zusammenfassung

Die Polymorphismen der thrombozytären Glykoproteine Ia-IIa (GP Ia C807T) und HPA-1a/1b (GP IIIa T1565C), des Fibrinolyseinhibitors PAI-1 675 4G/5G sowie der Methylentetrahydrofolatreduktase MTHFR C677T werden immer wieder als Risikofaktoren für arterielle und venöse Thrombembolien diskutiert. Ihr prädiktiver Wert für das Auftreten von thrombembolischen Ereignissen ist jedoch aufgrund einer widersprüchlichen Datenlage unklar. Nach derzeitigem Kenntnisstand gehen die genannten Polymorphismen nicht gesichert mit einem erhöhten Thrombembolierisiko einher. Daher ist ihre Untersuchung zurzeit weder in der arteriellen noch in der venösen Thrombophiliediagnostik indiziert. Aufgrund der hohen Prävalenzen dieser genetischen Merkmale bedarf es weiterer Untersuchungen, um die Grenzen zwischen Confoundereffekt und Risikofaktor zu definieren.

Abstract

The polymorphisms of the platelet glycoprotein Ia-IIa (GP Ia C807T) and HPA-1a/1b (GP IIIa T1565C), the fibrinolysis inhibitor PAI-1 -675 4G/5G, and methylenetetrahydrofolate reductase MTHFR C677T are frequently discussed as genetic parameters for evaluating arterial or venous thromboembolic risk. However, due to currently inconsistent data, the predictive values of these polymorphisms are controversial. There is no clear evidence that the presence of one of these polymorphisms is associated with an increased risk for arterial or venous thromboembolism, which strongly argues against testing. Furthermore, the polymorphisms alone do not justify any treatment decisions for primary or secondary thromboprophylaxis. Because of the high prevalence of these polymorphisms, further, larger trials are required to differentiate between confounding effects and risk factors.

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Seidel, H. Bedeutung von Polymorphismen für venöse und arterielle Thrombosen. medgen 20, 223–229 (2008). https://doi.org/10.1007/s11825-008-0109-8

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Schlüsselwörter

  • Venöse Thrombose
  • Myokardinfarkt
  • Plättchenrezeptorpolymorphismen
  • PAI-1 4G/5G-Polymorphismus
  • MTHFR C677T-Polymorphismus

Keywords

  • Venous thromboembolism
  • Myocardial infarction
  • Platelet receptor polymorphisms
  • PAI-1 4G/5G genetic polymorphism
  • MTHFR C677T polymorphisms