Role of genetic polymorphism in the pathogenesis of cerebrovascular disease

Abstract

Presented was a review of the most recent literature devoted to the main genes responsible for the formation of atherothrombosis of the cerebral vessels. The aim was to analyze the data in the literature regarding several genetic factors responsible for the development of cerebrovascular disease, particularly ischemic stroke. Conducted was an electronic search of full-text and abstract-only versions of articles, which cover the aspects of genetic susceptibility to ischemic stroke, according to the databases PUBMED, OMIM and GENE using the following main keywords: «cerebrovascular disease», «ischemic stroke», «cerebral atherosclerosis», «gene polymorphism», «mutation». Medical diagnostics today has modern technologies of genotyping, which make it possibe to accurately determine the genotype of a person, thus opening up wide prospects for the development of personalized medicine. The majority of genetic variations is due to single nucleotide substitutions that lead to quantitative changes in expression or affect the biological properties of the proteins. Approximately 10 million single nucleotide polymorphisms are known, however their biological significance is not always obvious. Currently hereditary predisposition to atherosclerosis is being actively studied, identified were the genetic variants of genes of blood lipid metabolism, endothelial dysfunction, hemostatic system, and proteins involved in platelet aggregation and thrombosis. An individual «genetic passport» makes it possible to determine the risk factors for atherosclerotic lesions of blood vessels in a specific individual long before the development of the disease. Determination and investigation of groups of genes that are responsible for the development of atherosclerosis in people living in specific areas is still of utmost relevance. Based on these studies it is possible to establish specific test systems for the Republic of Tatarstan for diagnosing predisposition to the development of certain forms of atherosclerosis, the widespread introduction of which will significantly reduce the mortality and disability of the population, the economic and social damage.

Association of Allelic Variants of the Gene Cyp17a1 With Stroke Risk

“…Важным направлением работ в этой области является определение риска развития заболевания на основе поиска генетических предикторов. Последние годы активно обсуждается проблема генетической предрасположенности к развитию инсульта [1,8]. Идентификация генетической предрасположенности к инсульту и другим мультифакторным заболеваниям проводится на основе анализа возможного участия белкового продукта тестируемого гена в патогенезе заболевания [1,8,14].…”

“…Последние годы активно обсуждается проблема генетической предрасположенности к развитию инсульта [1,8]. Идентификация генетической предрасположенности к инсульту и другим мультифакторным заболеваниям проводится на основе анализа возможного участия белкового продукта тестируемого гена в патогенезе заболевания [1,8,14]. О возможной ассоциации гена-кандидата или отдельных областей генома с мультифакторным заболеванием можно судить по наличию статистически значимых различий частоты генотипов в группах больных и здоровых носителей полиморфных аллелей в рамках данной популяции [4,8,14].…”