Genetics of stroke: a review of recent advances

Abstract

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.

Keywords::

• association study
• genetics
• genome-wide linkage
• intracerebral hemorrhage
• meta-analysis
• stroke
• therapy

Financial & competing interests disclosure

This study was supported by a grant from the Spanish government (FIS06/0586), Fundación Mutua Madrileña 2006, Fundación Ramon Areces 2007 and by the Spanish stroke network RENEVAS. Sophie Domingues-Montanari was granted a fellowship from the Fundación Ramon Areces.

The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this review manuscript.