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Prothrombotic gene polymorphisms and atherothrombotic cerebral infarction
Author(s) -
Petrovič D.,
Milanez T.,
Kobal J.,
Bregar D.,
Potisk K. P.,
Peterlin B.
Publication year - 2003
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1034/j.1600-0404.2003.00126.x
Subject(s) - genotype , medicine , risk factor , factor v , point mutation , polymorphism (computer science) , gene mutation , plasminogen activator inhibitor 1 , factor vii , gastroenterology , genetics , plasminogen activator , biology , mutation , gene , thrombosis , coagulation
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/Gln 353 ) 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/Gln 353 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/Gln 353 gene polymorphism have not proved to be risk factors for ACI.