Molecular Genetics in Ischemic Stroke / 대한뇌혈관외과학회지

ABSTRACT

Ischemic stroke is a heterogeneous disease caused by different pathogenic mechanisms, of which small artery and large artery stroke are the most common. Although the identification of the genes involved is unclear, genetic factors are increasingly recognized as influencing risk for atherosclerosis or arteriolosclerosis directly and indirectly. Genetic makeup may influence the development of major vascular risk factors or alter susceptibility of the cerebral vasculature to these risk factors. Some researchers have reported that atherosclerosis is high in people with functional variants of genes related to matrix deposition (matrix metalloproteinase 3), inflammation (interleukin-6), and lipid metabolism (hepatic lipase, apolipoprotein E, cholesteryl ester transfer protein, and paraoxonase) and clotting (factor V Leiden, fibrinogen). More recently, newly identified risk factors for atherosclerosis, such as plasma homocysteine (5,10-methylenetetrahydrofolate reductase). In this review, we assess the robustness of these associations and examine whether there is any evidence of risk modifications by factors, such as smoking.