medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-350Research ArticleНАУЧНЫЕ ОБЗОРЫREVIEWВариабельность генома соматических клеток при многофакторных заболеваниях человекаGenome variability of somatic cells in human complex diseasesНазаренкоМ. С.NazarenkoM. S.maria.nazarenko@medgenetics.ruСлепцовА. А.SleptcovA. A.noemail@neicon.ruМарковА. В.MarkovA. V.noemail@neicon.ruПузыревВ. П.PuzyrevV. P.noemail@neicon.ruНаучно-исследовательский институт медицинской генетики, Томский национальный исследовательский медицинский центр Российской академии наук; Научно-исследовательский институт комплексных проблем сердечно-сосудистых заболеванийРоссияResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences; Research Institute for Complex Issues of Cardiovascular DiseasesRussian FederationНаучно-исследовательский институт медицинской генетики, Томский национальный исследовательский медицинский центр Российской академии наукРоссияResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of SciencesRussian FederationНаучно-исследовательский институт медицинской генетики, Томский национальный исследовательский медицинский центр Российской академии наук; Сибирский государственный медицинский университетРоссияResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences; Siberian State Medical UniversityRussian Federation201720022018161248Copyright © Назаренко М.С., Слепцов А.А., Марков А.В., Пузырев В.П., 20182018Назаренко М.С., Слепцов А.А., Марков А.В., Пузырев В.П.Nazarenko M.S., Sleptcov A.A., Markov A.V., Puzyrev V.P.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/350

В обзоре обcуждается одно из перспективных фундаментальных направлений исследований генетики многофакторных заболеваний (МФЗ), связанное с изучением вариабельности генома соматических клеток в органах-мишенях. Приведены результаты собственного исследования относительно вариабельности числа копий участков ДНК и уровня метилирования ДНК в лейкоцитах периферической крови и клетках артерий при их атеросклеротическом поражении у человека. С практической точки зрения, выявленные молекулярные мишени могут быть использованы в качестве биомаркеров для профилактики, диагностики и лечения МФЗ.

One promising fundamental area of research of genetics of complex diseases, related to the study of the genome variability of somatic cells in target organs was underlined in the review. The results of own research on the copy number variations and DNA methylation level in peripheral blood leukocytes and arterial cells in human atherosclerosis were shown. From a practical point of view, the identified molecular targets can be used as biomarkers for the prevention, diagnosis, and treatment of complex diseases.

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The authors declare that there are no conflicts of interest present.