Russian Journal of GeneticsRussian Journal of GeneticsГенетика0016-67583034-5103The Russian Academy of Sciences66695310.31857/S0016675824040087crcouhГЕНЕТИКА ЧЕЛОВЕКАResearch ArticleAnalysis of the involvement of susceptibility genes to to coronary heart disease in implementation signaling and metabolic pathwaysАнализ вовлеченности генов предрасположенности к ишемической болезни сердца в реализацию сигнальных и метаболических путейChasovskikhN. Yu.ЧасовскихН. Ю.
Russian Federation
evgenika06@gmail.comShestakovaE. E.ШестаковаЕ. Е.
Russian Federation
evgenika06@gmail.comSiberian State Medical UniversityСибирский государственный медицинский университет110420246049410326022025Copyright ©; 2024, Russian Academy of SciencesCopyright ©; 2024, Российская академия наук2024Russian Academy of SciencesРоссийская академия наукhttps://transsyst.ru/0016-6758/article/view/666953

Coronary heart disease (CHD) is a common pathology, and its development is mediated by a large number of genetic factors, environmental factors and their combinations. In this regard, the objective of the study was a bioinformatic analysis of the involvement of susceptibility genes to CHD in the implementation of signaling and metabolic pathways. The list of susceptibility genes was compiled using GWAS, DisGeNET and GeneCards databases. Pathway enrichment analysis was performed using the ClueGO v2.5.9 Cytoscape v3.9.1 plugin. As a result of the study, it was established that these genes are involved in the implementation of various mechanisms of development of CHD, including disorders of lipid metabolism, changes in the activity of elements of the complement system, and endothelial function. Hereditary factors can influence changes in the processes of regulation of thrombus formation, vascular tone, the balance of pro- and antioxidant factors, endothelial permeability, water and sodium adsorption, as well as the processes of angiogenesis. In this case, the genes under study may be involved in the implementation of one or several signaling/metabolic pathways.

Ишемическая болезнь сердца (ИБС) является распространенной патологией, и ее развитие опосредуется большим числом генетических факторов, факторов внешней среды и их комбинаций. В связи с этим задачей исследования явился биоинформационный анализ вовлеченности генов предрасположенности к ИБС в реализацию сигнальных и метаболических путей. Список генов предрасположенности был составлен при помощи баз данных GWAS, DisGeNET и GeneCards. Анализ обогащения путей проводился с использованием плагина ClueGO v2.5.9 Cytoscape v3.9.1. В результате проведенного исследования установлено, что данные гены вовлечены в реализацию различных механизмов развития ИБС, включая нарушения липидного метаболизма, изменения активности элементов системы комплемента, функции эндотелия. Наследственные факторы могут оказывать влияние на процессы регуляции тромбообразования, тонус сосудов, баланс про- и антиокислительных факторов, проницаемость эндотелия, адсорбцию воды и натрия, а также процессы ангиогенеза. При этом исследуемые гены могут быть вовлечены в реализацию одного либо нескольких сигнальных/метаболических путей.

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