title: The plasminogen activator inhibitor-1 gene polymorphism in determining the risk of pediatric ischemic stroke--case control and family-based study.
abstract: 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 AgNO₃ 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 4 G/5 G polymorphism of the PAI-I gene is not a risk factor of ischemic stroke in Polish children.
authors.affiliation: Department of Biochemistry and Medical Genetics, School of Health Care, Medical University of Silesia, Katowice, Poland. abalcerzyk@sum.edu.pl
authors.forename: A
authors.initials: A
authors.lastname: Balcerzyk
authors.forename: I
authors.initials: I
authors.lastname: Żak
authors.forename: E
authors.initials: E
authors.lastname: Emich-Widera
authors.forename: I
authors.initials: I
authors.lastname: Kopyta
authors.forename: T
authors.initials: T
authors.lastname: Iwanicki
authors.forename: E
authors.initials: E
authors.lastname: Pilarska
authors.forename: K
authors.initials: K
authors.lastname: Pienczk-Ręcławowicz
authors.forename: M
authors.initials: M
authors.lastname: Kaciński
authors.forename: J
authors.initials: J
authors.lastname: Wendorff
authors.forename: K
authors.initials: K
authors.lastname: Połatyńska
mesh_terms: D000293:Adolescent; D002545:Brain Ischemia / Q000150:complications; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D011044:Poland; D011110:Polymorphism, Genetic / Q000235:genetics*; D012307:Risk Factors; D020521:Stroke / Q000209:etiology / Q000235:genetics*
chemical_list: D017395:Plasminogen Activator Inhibitor 1