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Updated: May 24, 2026

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
Published on: September 9, 2012
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.
Introduction:
A single nucleotide polymorphism of the factor VII activating protease (FSAP), FSAP Marburg I (rs7080536) has been identified as a risk factor for venous thrombosis, but its clinical role has so far been controversial in part due to small cohort sizes. The aim of the present case-control study was to elucidate the impact of the FSAP Marburg I polymorphism (FSAP-MI) on the development of venous thromboembolic disease (VTE) with other known sequence variations, including Factor V Leiden (rs6025) and Factor II G20210A (rs1799963).
Materials And Methods:
The study included 891 patients (312 male and 579 female) with a history of deep venous thrombosis (DVT) and/or pulmonary embolism (PE) and 1283 healthy blood donors with no history of venous thromboembolic disease.
Results:
We found that besides to the well-established aforementioned sequence variations of FV and Prothrombin, the FSAP Marburg I (FSAP-MI) polymorphism was significantly associated with the development of DVTs (1.65 (1.16-2.34) OR (95% CI)) and recurrent thromboembolic events (DVT and PE) (2.13 (1.35-3.36) OR (95% CI)). Comparing patients displaying one or more events FSAP-MI was still associated with the development of recurrent thromboembolic events (1.64 (1- 2.69) OR (95% CI)).
Conclusions:
We conclude that FSAP Marburg-I genotyping may be used to determine the risk for thromboembolic disorders in patients with suspected thrombophilia and known DVT or PE.
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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