Genetics of ischemic stroke, stroke-related risk factors, stroke precursors and treatments

Pharmacogenomics. 2012 Apr;13(5):595-613. doi: 10.2217/pgs.12.14.


Stroke remains a leading cause of death worldwide and the first cause of disability in the western world. Ischemic stroke (IS) accounts for almost 80% of the total cases of strokes and is a complex and multifactorial disease caused by the combination of vascular risk factors, environment and genetic factors. Investigations of the genetics of atherosclerosis and IS has greatly enhanced our knowledge of this complex multifactorial disease. In this article we sought to review common single-gene disorders relevant to IS, summarize candidate gene and genome-wide studies aimed at discovering genetic stroke risk factors and subclinical phenotypes, and to briefly discuss pharmacogenetics related to stroke treatments. Genetics of IS is, in fact, one of the most promising research frontiers and genetic testing may be helpful for novel drug discoveries as well as for appropriate drug and dose selection for treatment of patients with cerebrovascular disease.

Publication types

  • Review

MeSH terms

  • Anticoagulants / pharmacokinetics*
  • Anticoagulants / therapeutic use
  • Brain Ischemia / complications
  • Brain Ischemia / drug therapy
  • Brain Ischemia / genetics*
  • Brain Ischemia / pathology
  • Carotid Stenosis / complications
  • Carotid Stenosis / drug therapy
  • Carotid Stenosis / genetics
  • Carotid Stenosis / pathology
  • Genome-Wide Association Study
  • Humans
  • Pharmacogenetics
  • Risk Factors
  • Stroke / etiology
  • Stroke / genetics*
  • Stroke / pathology
  • Stroke / prevention & control*
  • Thienopyridines / pharmacokinetics
  • Thienopyridines / therapeutic use
  • Tunica Intima / pathology
  • Warfarin / pharmacokinetics
  • Warfarin / therapeutic use


  • Anticoagulants
  • Thienopyridines
  • Warfarin