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A Thrombotic Stroke Model Based On Transient Cerebral Hypoxia-ischemia
06:01

A Thrombotic Stroke Model Based On Transient Cerebral Hypoxia-ischemia

Published on: August 18, 2015

Genetic susceptibility to ischemic stroke

James F Meschia1, Bradford B Worrall, Stephen S Rich

  • 1Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA. meschia.james@mayo.edu

Nature Reviews. Neurology
|June 2, 2011
PubMed

Insights

Genetic factors in ischemic stroke are complex. While single-gene disorders like sickle cell disease are important, common genetic variants have minor effects. Research is ongoing to understand stroke genetics and its clinical application.

Area of Science:

  • Neurology
  • Genetics
  • Internal Medicine

Background:

  • Ischemic stroke has several associated single-gene disorders.
  • Genome-wide association studies (GWAS) have not identified major common genetic risk variants for ischemic stroke.
  • Pharmacogenomic studies have identified genetic factors influencing response to stroke medications.

Purpose of the Study:

  • To review single-gene disorders associated with ischemic stroke.
  • To summarize current research on genetic risk factors for ischemic stroke.
  • To discuss the role of pharmacogenomics in stroke treatment.

Main Methods:

  • Literature review of single-gene disorders and ischemic stroke.
  • Summary of findings from candidate gene and genome-wide association studies.
  • Discussion of pharmacogenomic data relevant to stroke.

Main Results:

  • Several single-gene disorders present with ischemic stroke.
  • No single common genetic variant has been found to significantly increase ischemic stroke risk.
  • Ongoing large-scale studies aim to identify common variants with smaller effects.
  • Genetic factors influencing response to warfarin, statins, and clopidogrel have been identified.

Conclusions:

  • Awareness of single-gene disorders is crucial for clinicians treating stroke patients.
  • Current understanding of common genetic variants offers limited major risk prediction.
  • Integrating genetic knowledge into clinical practice for stroke remains a challenge.
  • Pharmacogenomics offers potential for personalized stroke treatment.

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