The G534E-polymorphism of the gene encoding the factor VII-activating protease is a risk factor for venous thrombosis

Parviz Ahmad-Nejad1, Carl-Erik Dempfle, Christel Weiss

  • 1Institute for Clinical Chemistry, University Medical Centre Mannheim, Medical Faculty Mannheim, University of Heidelberg, Germany.

Thrombosis Research
|March 17, 2012
PubMed
Abstract

Insights

The FSAP Marburg I polymorphism is linked to an increased risk of deep vein thrombosis and recurrent blood clots. Genotyping this variant can help assess thrombophilia risk in patients with a history of VTE.

Area of Science:

  • Genetics
  • Hematology
  • Thrombosis Research

Background:

  • The Factor VII Activating Protease (FSAP) Marburg I (rs7080536) polymorphism's role in venous thrombosis has been debated due to limited data.
  • This study investigates the FSAP Marburg I polymorphism (FSAP-MI) alongside Factor V Leiden and Factor II G20210A variations.

Purpose of the Study:

  • To determine the impact of the FSAP Marburg I polymorphism on the development of venous thromboembolic disease (VTE).
  • To evaluate FSAP-MI's association with VTE in comparison to other known genetic risk factors.

Main Methods:

  • A case-control study involving 891 patients with a history of deep venous thrombosis (DVT) and/or pulmonary embolism (PE).
  • Comparison group comprised 1283 healthy blood donors without a history of VTE.
  • Genotyping for FSAP Marburg I, Factor V Leiden, and Factor II G20210A polymorphisms.

Main Results:

  • The FSAP Marburg I (FSAP-MI) polymorphism was significantly associated with the development of DVTs (OR 1.65, 95% CI 1.16-2.34).
  • FSAP-MI was also significantly associated with recurrent thromboembolic events (DVT and PE) (OR 2.13, 95% CI 1.35-3.36).
  • Even when considering patients with one or more events, FSAP-MI remained associated with recurrent events (OR 1.64, 95% CI 1-2.69).

Conclusions:

  • FSAP Marburg-I genotyping is a valuable tool for assessing the risk of thromboembolic disorders.
  • This genotyping can aid in managing patients with suspected thrombophilia and a history of DVT or PE.

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