The Plasminogen Activator Inhibitor-1 Gene Polymorphism in Determining the Risk of Pediatric Ischemic Stroke - Case Control and Family-Based Study

Pediatric ischemic stroke, though relatively rare, remains an important medical problem since 20-40% of patients have recurrent strokes and 50-85% of them suffer from long-term neurological deficits. Approximately 20-50% of the affected children have prothrombotic disorders, therefore upon looking for possible genetic causes of the disease we focused on the plasminogen activator inhibitor (PAI-1) - the major inhibitor of fibrinolysis. The aim of the present study was to investigate a possible association between the -675_-674insG PAI-1 gene polymorphism and pediatric ischemic stroke. The study population consisted of 343 individuals: 70 children with ischemic stroke, 140 their biological parents and 133 control children. The PAI-1 gene polymorphism was genotyped using the restriction fragment length polymorphism and was visualized by AgNO(3) staining. The transmission/disequilibrium test showed exactly the same transmission of alleles from parents to the affected children (37: 37). The case-control model also did not reveal any statistical significance in alleles and genotypes distribution between patients and control children. The obtained results suggest that the 4G/5G polymorphism of the PAI-I gene is not a risk factor of ischemic stroke in Polish children.