Stroke is generally a late-onset multifactorial disease that results from the contribution of a large number of minor genetic and environmental risk factors, although a considerable number of rare monogenic disorders that can cause stroke have been described. One of the first and major advances in the genetics of multifactorial stroke has been the publication of the first putative gene associated with common polygenic ischemic stroke by an Icelandic group, opening the door to a new exciting era of molecular diagnostics in stroke research. A search of the literature reveals now more than 500 studies trying to identify the genetic components of sporadic stroke through different approaches, such as genome-wide linkage analysis, candidate-gene studies or genome-wide association studies.

These studies evaluate the effect of genetic variants at various levels ranging from predisposition to the disease to predisposition to conventional risk factors, modeling of the effect of risk factors, direct effect on infarct size, response to treatments or outcome. A large number of candidate genes has been investigated, although few associations have been consistently replicated. Most of the genes studied have been involved in the processes of inflammation, lipid metabolism, nitric oxide release, coagulation and haemostasis.

Thanks to new promising results obtained in the research laboratory, GenoKeys is currently developing a kit for the diagnosis of stroke by genetic testing. The kit is based on the extraction of DNA from a biological sample of an individual, usually blood, saliva or buccal cells. The genes contained in the DNA are then analyzed and the presence of specific mutations is examined to determine if the individual carries a high risk of stroke.