Genetics of stroke: a review of recent advances

Expert Rev Mol Diagn. 2008 Jul;8(4):495-513. doi: 10.1586/14737159.8.4.495.


Stroke is a multifactorial disease responsible for nearly 10% of deaths each year in industrialized countries. While some monogenic forms of stroke have been described, the vast majority result from the common polygenic form of the disease. Progress in molecular genetics has allowed the identification, through genome-wide linkage analysis, of various candidate genes, including the genes encoding PDE4D and ALOX5AP. Since then, genetic research has been extensively performed from single candidate genes to whole-genome scan studies, in parallel with the development of high-throughput technologies in molecular diagnostics. Additionally, the safety and efficacy of tissue plasminogen activator, the only approved therapy for the acute phase of stroke, is modulated by genetic background associated with the occurrence of hemorrhagic transformations and with the revascularization of the cerebral arteries. In the near future, understanding the contribution of stroke genetic factors will lead to improvements in prevention and treatments for neurovascular diseases.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • 5-Lipoxygenase-Activating Proteins
  • Animals
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Cerebral Arteries / metabolism
  • Cyclic Nucleotide Phosphodiesterases, Type 3 / genetics*
  • Cyclic Nucleotide Phosphodiesterases, Type 3 / metabolism
  • Cyclic Nucleotide Phosphodiesterases, Type 4
  • Genetic Linkage*
  • Genome, Human*
  • Humans
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Stroke / diagnosis
  • Stroke / drug therapy
  • Stroke / genetics*
  • Stroke / metabolism
  • Stroke / mortality
  • Tissue Plasminogen Activator / therapeutic use


  • 5-Lipoxygenase-Activating Proteins
  • ALOX5AP protein, human
  • Carrier Proteins
  • Membrane Proteins
  • Cyclic Nucleotide Phosphodiesterases, Type 3
  • Cyclic Nucleotide Phosphodiesterases, Type 4
  • PDE4D protein, human
  • Tissue Plasminogen Activator