Prothrombotic gene polymorphisms and atherothrombotic cerebral infarction

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Petrovič D, Milanez T, Kobal J, Bregar D, Potisk KP, Peterlin B. Prothrombotic gene polymorphisms and atherothrombotic cerebral infarction.

Acta Neurol Scand 2003: 108: 109–113. © Blackwell Munksgaard 2003. 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.

Keywords: 4G/5G PAI-1 gene promoter polymorphism; G1691A factor V point mutation; atherothrombotic stroke; factor VII Arg/Gln353 gene polymorphism; risk factors

Document Type: Research Article


Affiliations: 1: Institute of Histology and Embryology, Medical Faculty Ljubljana, Ljubljana; 2: Department of Nuclear Medicine, Medical Centre Ljubljana, Ljubljana; 3: Department of Neurology, Medical Centre Ljubljana, Ljubljana; 4: Institute for Rehabilitation Republic of Slovenia, Ljubljana; 5: Division of Medical Genetics, Department of Obstetrics and Gynaecology, Medical Centre Ljubljana, Slovenia

Publication date: August 1, 2003

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