Prothrombotic gene polymorphisms and atherothrombotic cerebral infarction.
OBJECTIVE
To test the hypothesis whether risk genotypes of the prothrombotic gene polymorphisms (I/D 4G5G PAI-1, G1691A factor V point mutation, factor VII Arg/Gln353) are risk factors for ACI in the Slovene population. The study sought an association between the insertion/deletion 4G/5G-plasminogen activator inhibitor 1 (PAI-1) gene polymorphism, the 1691G-A factor V point mutation or the arg353-to-gln factor VII gene polymorphism and atherothrombotic cerebral infarction (ACI).


METHODS
Ninety-six Slovene patients who suffered ACI were compared with 115 control subjects clinically free of cerebrovascular disease. Insertion/deletion 4G/5G PAI-1 gene polymorphism, 1691G-A factor V point mutation and arg353-to-gln polymorphism in the factor VII were determined using polymerase chain reaction.


RESULTS
The 4G4G genotype of 4G5G PAI-1 gene polymorphism was less frequent in cases (21.9%) than in controls (35.6%; OR = 0.5, 95% CI = 0.3-1; P = 0.033). No association was found either between the factor V point mutation (1691G-A) or the RR genotype of the factor VII Arg/Gln353 gene polymorphism and the risk of ACI using univariate analysis.


CONCLUSIONS
The 4G/4G-PAI-1 genotype might be a protective factor against ACI, whereas the factor V point mutation (1691G-A) and the factor VII Arg/Gln353 gene polymorphism have not proved to be risk factors for ACI.
Petrovic
D
D
Institute of Histology and Embryology, Medical Faculty Ljubljana, Ljubljana, Slovenia. daniel.petrovic@mf.uni-lj.si
Milanez
T
T
Kobal
J
J
Bregar
D
D
Potisk
K P
KP
Peterlin
B
B
D000368:Aged; D016022:Case-Control Studies; D002544:Cerebral Infarction / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D005167:Factor VII / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012307:Risk Factors; D017524:Slovenia
D017395:Plasminogen Activator Inhibitor 1; D005165:Factor V; D005167:Factor VII