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

Authors: Ahmad-Nejad, P  Dempfle, CE  Weiss, C  Bugert, P  Borggrefe, M  Neumaier, M 
Citation: Ahmad-Nejad P, etal., Thromb Res. 2012 Sep;130(3):441-4. doi: 10.1016/j.thromres.2012.02.009. Epub 2012 Mar 14.
Pubmed: (View Article at PubMed) PMID:22421107
DOI: Full-text: DOI:10.1016/j.thromres.2012.02.009

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.

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CRRD Object Information
CRRD ID: 11353820
Created: 2016-07-22
Species: All species
Last Modified: 2016-07-22
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.