Author/Editor     Petrovič, D; Milanez, T; Kobal, J; Bregar, D; Potisk, KP; Peterlin, B
Title     Prothrombotic gene polymorphisms and atherothrombotic cerebral infarction
Type     članek
Source     Acta Neurol Scand
Vol. and No.     Letnik 108, št. 2
Publication year     2003
Volume     str. 109-13
Language     eng
Abstract     Objectives: 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). Material and 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. Conclusion: 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.
Descriptors     CEREBRAL INFARCTION
POLYMORPHISM (GENETICS)
GENOTYPE
POINT MUTATION
PLASMINOGEN ACTIVATOR INHIBITOR 1
PROMOTER REGIONS (GENETICS)
CEREBRAL ARTERIOSCLEROSIS
POLYMERASE CHAIN REACTION
FACTOR V
FACTOR VII