GLU298ASP and 4G/5G Polymorphisms and the Risk of Ischemic Stroke in Young Individuals

Can J Neurol Sci. 2015 Sep;42(5):310-6. doi: 10.1017/cjn.2015.45. Epub 2015 Jun 3.

Abstract

Background: Polymorphisms in the endothelial nitric oxide synthase (eNOS) and in the plasminogen activator inhibitor -1 (PAI-1) genes have been implicated in stroke pathogenesis but results are still controversial. The aim of this study was to examine the possible contribution of Glu298Asp in the eNOS and 4G/5G in the PAI-1polymorphisms with ischemic stroke in a young Mexican population.

Materials and methods: In a case-control study, conducted between January 2006 and June 2010, 204 patients ≤45 years of age with ischemic stroke and 204 controls matched by age and gender, were recruited. The Glu298Asp and 4G/5G polymorphisms were determined in all participants by polymerase chain reaction-restriction fragment length polymorphism.

Results: There was a significant difference in the Glu298Asp genotype distribution (P=0.001) and allele frequency between the two groups (P=0.001). The 4G/5G genotype distribution (P=0.40) and the allele frequency was similar between groups; (P=0.13). There were independent factors for ischemic stroke: Asp carriage (GluAsp+AspAsp) (P=0.02); smoking (P=0.01); hypertension (P=0.03), and familial history of atherothrombotic disease (P=0.04).

Conclusions: The Asp allele from the Gu298Asp gene represents an independent risk factor for ischemic stroke in a young Mexican population. In contrast, the 4G/5G was not associated with an increased risk for this disease in the same group of patients, as previously has been demonstrated in other populations.

Keywords: Endothelial dysfunction; eNOS; genetic risk; ischemic stroke; plasminogen activator inhibitor.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aspartic Acid / genetics
  • Brain Ischemia / complications
  • Case-Control Studies
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Glutamic Acid / genetics
  • Humans
  • Male
  • Mexico
  • Nitric Oxide Synthase Type III / genetics*
  • Plasminogen Activator Inhibitor 1 / genetics*
  • Polymorphism, Genetic / genetics*
  • Stroke / etiology
  • Stroke / genetics*

Substances

  • Plasminogen Activator Inhibitor 1
  • Aspartic Acid
  • Glutamic Acid
  • Nitric Oxide Synthase Type III