title: The G534E-polymorphism of the gene encoding the factor VII-activating protease is a risk factor for venous thrombosis and recurrent events.
abstract: BACKGROUND
  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).
  
  
  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.
authors.affiliation: Institute for Clinical Chemistry, University Medical Centre Mannheim, Medical Faculty Mannheim, University of Heidelberg, Germany.
authors.forename: Parviz
authors.initials: P
authors.lastname: Ahmad-Nejad
authors.forename: Carl-Erik
authors.initials: CE
authors.lastname: Dempfle
authors.forename: Christel
authors.initials: C
authors.lastname: Weiss
authors.forename: Peter
authors.initials: P
authors.lastname: Bugert
authors.forename: Martin
authors.initials: M
authors.lastname: Borggrefe
authors.forename: Michael
authors.initials: M
authors.lastname: Neumaier
mesh_terms: D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D005858:Germany / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012008:Recurrence; D012307:Risk Factors; D012697:Serine Endopeptidases / Q000235:genetics*; D020246:Venous Thrombosis / Q000201:enzymology / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D005819:Genetic Markers; C433550:HABP2 protein, human; D012697:Serine Endopeptidases