The purpose of this study was to give a comparative characteristics of the prevalence of polymorphic alleles in the genes of the hemostatic system (PAI-1 (- 675 5G / 4G) and FGB (- 455 G / A)) in patients with sudden cardiac death and acute coronary syndrome in patients undergoing coronary artery stenting.
Material and methods. Genetic typing of biological material (BM) was performed for the prevalence of polymorphic alleles in two genes of the hemostasis system. BM was selected from people with a diagnosis of coronary artery disease, divided into three comparison groups: I - suddenly deceased citizens with a diagnosis of coronary artery disease, II - patients with ACS who underwent urgent coronary artery stenting, III - patients with a chronic form of coronary artery disease endovascular surgery was performed as planned.
Results and discussion. The calculated criterion 2 of the prevalence of polymorphisms in the FGB (- 455 G / A) and PAI-1 (- 675 5G / 4G) genes turned out to be more than the critical (tabular) value, which indicates the existing relationship between the presence of IHD and the carriage of one of polymorphic alleles. Based on the same data, the 2 criterion was calculated without taking into account data for a group of healthy citizens. For carriers of the polymorphic allele of the FGB gene (- 455 G / A), no statistically significant differences were found. For carriers of the PAI-1 gene polymorphic allele (- 675 5G / 4G), statistically significant differences were found.
Conclusions. ACS with a favorable outcome (subject to emergency surgical intervention) occurs at an earlier age compared to suddenly dead citizens diagnosed with coronary artery disease. The presence of a mutant allele in the PAI-1 gene (- 675 5G / 4G) requires further studies in order to expertly assess the death rate in patients after surgery with coronary stenting.
Приведен обзор современной литературы, посвященной проблеме судебно-медицинской интерпретации результатов молекулярно-генетического исследования внезапно умерших лиц молодого возраста. Авторы попытались провести параллель между морфологическими маркерами различных вариантов кардиомиопатии как наиболее часто встречающегося заболевания при внезапной смерти в молодом возрасте и ассоциации с генетическими мутациями в генах, ответственных за синтез белков саркомера, десмосом и мембранных каналов. По результатам анализа предложены направления дальнейших исследований для повышения точности судебно-медицинского диагноза в случаях смерти лиц молодого возраста. Ключевые слова: внезапная сердечная смерть, кардиомиопатия, гены-кандидаты наследственной предрасположенности.
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