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Closure of a Patent Foramen Ovale (PFO): An Intervention Sequence
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Ischemic stroke and patent foramen ovale: risk factors and genetic profile

Maria Lantz1, Christina Sjöstrand, Konstantinos Kostulas

  • 1Department of Neurology, Karolinska Institutet, Karolinska University Hospital Huddinge, Sweden. maria.lantz@karolinska.se

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
|July 13, 2012
PubMed

Insights

Patent foramen ovale (PFO) is linked to ischemic cerebrovascular disease (ICVD). Genetic analysis revealed a strong association between the F2 gene polymorphism and both PFO and ICVD in stroke patients.

Area of Science:

  • Cardiovascular Genetics
  • Neurology
  • Stroke Research

Background:

  • Patent foramen ovale (PFO) is a potential risk factor for ischemic cerebrovascular disease (ICVD), particularly in younger individuals.
  • The precise role of PFO in the pathophysiology of ischemic stroke remains debated and requires further investigation.
  • This study explored conventional risk factors and genetic polymorphisms associated with ICVD in patients with and without PFO.

Purpose of the Study:

  • To investigate the association between genetic polymorphisms and ischemic cerebrovascular disease (ICVD) in patients with and without patent foramen ovale (PFO).
  • To identify specific gene variants that may confer susceptibility to ICVD in the presence of PFO.

Main Methods:

  • Genotyping of 100 polymorphisms in 47 suspected susceptibility genes was performed on 928 ICVD patients and 602 controls from the South Stockholm Ischemic Stroke Study.
  • Stroke patients underwent comprehensive investigations, including standardized blood tests and, for a subset, transesophageal echocardiography to determine PFO status.
  • Patients were categorized into groups based on the presence or absence of PFO.

Main Results:

  • No significant differences in conventional risk factors or blood test results were observed between patients with and without PFO.
  • Three polymorphisms in the prothrombin (F2) gene (20210G/A) and apolipoprotein-C3 (APO-CIII) genes (-641A/C and -455T/A) showed a significant association with ICVD and PFO.
  • The F2 gene polymorphism exhibited the strongest association (P = .0049; odds ratio 26.4).

Conclusions:

  • The prothrombin F2 gene polymorphism is significantly associated with both ICVD and PFO, supporting its potential role as a link between these conditions.
  • A trend towards association was observed between two APO-CIII gene polymorphisms and the co-occurrence of PFO and ICVD.
  • These genetic findings contribute to understanding the complex relationship between PFO and stroke risk.
Abstract

Keywords:
Geneticsischemic strokepatent foramen ovalepolymorphism

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