Factor V Leiden and prothrombin gene G20210A mutations in Italian patients with Behçet's disease and deep vein thrombosis.
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.
Silingardi
Mauro
M
Ospedale di Reggio Emilia, Regio Emilia, Italy.
Salvarani
Carlo
C
Boiardi
Luigi
L
Accardo
Pietro
P
Iorio
Alfonso
A
Olivieri
Ignazio
I
Cantini
Fabrizio
F
Salvi
Fabrizio
F
La Corte
Renato
R
Triolo
Giovanni
G
Ciccia
Francesco
F
Ghirarduzzi
Angelo
A
Filippini
Davide
D
Paolazzi
Giuseppe
G
Iori
Ido
I
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*
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin