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The plasminogen activator inhibitor-1 gene polymorphism in determining the risk of pediatric ischemic stroke--case

A Balcerzyk1, I Żak, E Emich-Widera

  • 1Department of Biochemistry and Medical Genetics, School of Health Care, Medical University of Silesia, Katowice, Poland. abalcerzyk@sum.edu.pl

Neuropediatrics
|June 8, 2011
PubMed

Insights

The plasminogen activator inhibitor (PAI-1) 4 G/5 G gene polymorphism is not associated with pediatric ischemic stroke in Polish children. This study found no increased risk in children with this common genetic variation.

Area of Science:

  • Genetics
  • Pediatric Neurology
  • Hematology

Background:

  • Pediatric ischemic stroke is a significant cause of long-term neurological deficits and recurrent events.
  • Prothrombotic disorders are present in a substantial proportion of affected children.
  • The plasminogen activator inhibitor (PAI-1) is a key regulator of fibrinolysis and a potential candidate gene for thrombotic disorders.

Purpose of the Study:

  • To investigate the association between the -675_-674insG PAI-1 gene polymorphism and the risk of pediatric ischemic stroke.
  • To determine if the PAI-1 4 G/5 G polymorphism is a risk factor for ischemic stroke in Polish children.

Main Methods:

  • A case-control study involving 70 children with ischemic stroke, 140 biological parents, and 133 control children.
  • Genotyping of the PAI-1 gene polymorphism using restriction fragment length polymorphism (RFLP).
  • Analysis of allele transmission using the Transmission/Disequilibrium Test (TDT) and case-control analysis.

Main Results:

  • The TDT showed no significant distortion in allele transmission from parents to affected children (37:37).
  • Case-control analysis revealed no statistically significant differences in allele or genotype distributions between pediatric ischemic stroke patients and controls.
  • The PAI-1 4 G/5 G polymorphism was not found to be associated with an increased risk of ischemic stroke in the studied Polish pediatric population.

Conclusions:

  • The -675_-674insG PAI-1 gene polymorphism (4 G/5 G) is not a significant risk factor for pediatric ischemic stroke in Polish children.
  • Further research may be needed to explore other genetic or environmental factors contributing to pediatric ischemic stroke.

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