medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2018.03.30-33medgen-404Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHСпектр структурных вариаций генома у больных с ишемической болезнью сердцаSpectrum of structural variations in patients with coronary heart diseaseСлепцовА. А.SleptsovA. A.alexei.sleptcov@medgenetics.ruНазаренкоМ. С.NazarenkoM. S.noemail@neicon.ruСкрябинН. А.SkryabinN. A.noemail@neicon.ruКазанцевА. Н.KazantsevA. N.noemail@neicon.ruБарбарашО. Л.BarbarashO. L.noemail@neicon.ruПузыревВ. П.PuzyrevV. P.noemail@neicon.ruНаучно-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; Научно-исследовательский институт комплексных проблем сердечно-сосудистых заболеваний; Сибирский государственный медицинский университетРоссияResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences; Research Institute for Complex Issues of Cardiovascular Diseases; Siberian State Medical UniversityRussian FederationНаучно-исследовательский институт комплексных проблем сердечно-сосудистых заболеванийРоссияResearch Institute for Complex Issues of Cardiovascular DiseasesRussian 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 Federation2018030420181733033Copyright © Слепцов А.А., Назаренко М.С., Скрябин Н.А., Казанцев А.Н., Барбараш О.Л., Пузырев В.П., 20182018Слепцов А.А., Назаренко М.С., Скрябин Н.А., Казанцев А.Н., Барбараш О.Л., Пузырев В.П.Sleptsov A.A., Nazarenko M.S., Skryabin N.A., Kazantsev A.N., Barbarash O.L., 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/404

Предполагается, что вариации числа копий участков ДНК (copy number variation, CNV) могут вносить вклад в формирование генетической структуры многофакторных заболеваний, тем самым объясняя определенную долю их наследуемости. Вместе с тем, поиск CNV у больных с ишемической болезнью сердца (ИБС) с использованием матричной сравнительной геномной гибридизации (array comparative genome hybridization, aCGH) ранее не проводился. Цель исследования заключалась в оценке спектра и характеристике CNV у больных с ИБС с использованием технологии aCGH. Скрининг CNV выполнен с применением высокоразрешающих микрочипов SurePrint G3 Human CGH+SNP 2x400 K (Agilent Technologies). Тестируемые образцы ДНК получены из лейкоцитов периферической крови мужчин с ИБС (n = 10). В качестве референсной использовалась ДНК мужчины европейского происхождения (Agilent Euro Male, Agilent Technologies). Всего в лейкоцитах идентифицировано 90 CNV, среди них - 72 (80%) содержат гены, белковые продукты которых участвуют в иммуновоспалительном ответе, обеспечивают функционирование обонятельных рецепторов, а также ферментов метаболизма. Гены, картированные в области CNV в хромосомных субсегментах 1p22.2 ( GBP3 ), 1p21.1 ( AMY2B ) и 22q11.23 ( GSTT1, LOC391322 ), ранее были связаны с атеросклерозом и его факторами риска.

It is expected that copy number variation (CNV) potentially contribute to the formation of a genetic structure of complex diseases thus they would explain a part of the missing heritability. However, a search for CNV in patients with coronary heart disease (CHD) using high-resolution technique of array comparative genome hybridization (aCGH) has not previously been conducted. The goal of our study was to evaluate CNV spectrum and characteristics in patients with CHD using aCGH. The CNV screening was performed using high-resolution microarrays SurePrint G3 Human CGH + SNP 2x400 K (Agilent Technologies). The DNA samples were obtained from peripheral blood leukocytes of men with CHD (n = 10). Agilent Euro male DNA was used as a reference. We identified 90 CNV, among them 72 (80%) contained genes encode proteins related to the immune and inflammatory response, activity of olfactory receptors and metabolic enzymes. Genes mapped in the CNV region in the 1p22.2 ( GBP3 ), 1p21.1 ( AMY2B ) and 22q11.23 ( GSTT1 , LOC391322 ), were previously reported as associated with atherosclerosis and its risk factors.

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