Genetic aspects of the hemostatic system in cerebrovascular disease

Despite considerable research into the pathogenesis of cerebrovascular dise ase (CVD), acute stroke is the third most common cause of mortality in the Western world. The clinical management of acute stroke is largely supportiv e, although evidence is emerging for the benefit of early pharmacologic int ervention. Even when the benefits of these therapies are accounted for, a s ignificant proportion of patients remain disabled or die. Accordingly, stro ke prevention is likely to offer the most effective manner of reducing stro ke incidence. However, effective prevention depends on a reliable means of identifying and treating the risk factors associated with stroke and possib ly targeting preventive measures at high-risk groups. Atherosclerosis is th e process responsible for the development of ischemic CVD, and evidence is accumulating to suggest that these disorders are multifactorial, resulting from a complex series of interactions between genes and the environment. Th e outward expression of the disease, or the disease phenotype, is in part t he product of gene-gene and gene- environment interactions. Research method s harnessing molecular biology techniques, including polymerase chain react ion (PCR) and sequencing have, in contrast to coronary artery disease (CAD) , been under-utilized when it comes to furthering our understanding of the molecular epidemiology of CVD. This article reviews the evidence that strok e has a genetic basis and that the hemostatic system is an important risk f actor for stroke. The genetic regulation of a number of these hemostatic pr oteins is evaluated.