title: Factor V Leiden and prothrombin gene G20210A mutations in Italian patients with Behçet's disease and deep vein thrombosis.
abstract: OBJECTIVE
  To evaluate the frequency and type of vascular lesions and to study the association of factor V gene G1691A (Leiden) and prothrombin gene G20210A polymorphisms with venous thrombosis in Italian patients with Behçet's disease (BD).
  
  
  METHODS
  Included were 118 consecutive Italian BD patients followed over a 3-year period (1997-1999) who satisfied the International Study Group criteria for BD. The control group consisted of 132 healthy Italian blood donors. All BD patients and controls were genotyped by polymerase chain reaction and allele-specific restriction enzyme techniques for factor V Leiden and prothrombin gene G20210A polymorphisms.
  
  
  RESULTS
  Vascular lesions were observed in 37 (31.4%) patients. The 2 most common lesions were subcutaneous thrombophlebitis (10.2%) and deep vein thrombosis (DVT) of the legs (22.8%). No significant demographic and clinical differences between patients with and without DVT were present. The distribution of allele and genotype frequencies of prothrombin gene G20210A and factor V Leiden polymorphisms did not differ significantly between BD patients and healthy controls. The frequencies of carriage rates of prothrombin gene G20210A and factor V Leiden polymorphisms in BD patients with and without DVT were similar. However, the frequency of 20210A allele was significantly higher in BD patients with ocular disease than in those without, particularly in the patients with posterior uveitis/retinal vasculitis.
  
  
  CONCLUSIONS
  The frequency and types of vascular lesions in Italian BD patients were similar to those reported in studies from other countries. No association between factor V Leiden mutation and G20210A mutation in the 3'-untranslated region of the prothrombin gene with DVT was found. However, a prothrombin gene G20210A mutation may influence the development and severity of ocular involvement in BD.
authors.affiliation: Ospedale di Reggio Emilia, Regio Emilia, Italy.
authors.forename: Mauro
authors.initials: M
authors.lastname: Silingardi
authors.forename: Carlo
authors.initials: C
authors.lastname: Salvarani
authors.forename: Luigi
authors.initials: L
authors.lastname: Boiardi
authors.forename: Pietro
authors.initials: P
authors.lastname: Accardo
authors.forename: Alfonso
authors.initials: A
authors.lastname: Iorio
authors.forename: Ignazio
authors.initials: I
authors.lastname: Olivieri
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Cantini
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Salvi
authors.forename: Renato
authors.initials: R
authors.lastname: La Corte
authors.forename: Giovanni
authors.initials: G
authors.lastname: Triolo
authors.forename: Francesco
authors.initials: F
authors.lastname: Ciccia
authors.forename: Angelo
authors.initials: A
authors.lastname: Ghirarduzzi
authors.forename: Davide
authors.initials: D
authors.lastname: Filippini
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Paolazzi
authors.forename: Ido
authors.initials: I
authors.lastname: Iori
mesh_terms: D000293:Adolescent; D000328:Adult; D001528:Behcet Syndrome / Q000453:epidemiology / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D020246:Venous Thrombosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin