cardioКардиологияKardiologiia0022-90402412-5660Kardiomag10.18087/cardio.2018.4.10096cardio-124Research ArticleРАЗНОЕMISCELLANEOUSПолиморфизмы гена SCN10A у пациентов с синдромом слабости синусного узлаPolymorphisms of the SCN10A Gene in Patients With Sick Sinus SyndromeНикулинаС. Ю.NikulinaS. Yu.noemail@neicon.ruМариловцеваО. В.MarilovcevaOlga V.olguha83@mail.ruЧерноваА. А.ChernovaA. A.noemail@neicon.ruТретьяковаС. С.Tret’JakovaS. S.noemail@neicon.ruНикулинД. А.NikulinD. A.noemail@neicon.ruМаксимовВ. Н.MaksimovV. N.noemail@neicon.ruФГБОУ ВО «Красноярский государственный медицинский университет им. проф. В. Ф. Войно-Ясенецкого» Минздрава РФRussian FederationНаучно-исследовательский институт терапии и профилактической медицины - ФГБУН «Федеральный исследовательский центр Институт цитологии и генетики» СО РАНRussian Federation2018181120185845359Copyright © Kardiomag, 20182018KardiomagKardiomaghttps://cardio.elpub.ru/jour/about/submissions#copyrightNoticehttps://cardio.elpub.ru/jour/article/view/124

Цель исследования. Изучить ассоциацию полиморфизма rs6795970 гена SCN10A с развитием идиопатического синдрома слабости синусного узла (СССУ). Материалы и методы. Проведено обследование 109 больных с идиопатическим СССУ и 59 их здоровых родственников I, II, III степени родства, а также 630 лиц контрольной группы. Пациенты основной группы были разделены на подгруппы соответственно полу и клиническому варианту течения заболевания. Всем пациентам проведено кардиологическое обследование и молекулярно-генетическое исследование ДНК. Результаты. Установлено статистически значимое преобладание гомозиготного генотипа по редкому аллелю исследуемого гена в группе пациентов с идиопатическим СССУ по сравнению с контрольной группой. Кроме того, установлено статистически значимое преобладание указанного генотипа гена SCN10A среди мужчин с СССУ по сравнению с контрольной группой. Заключение. Генотип AA гена SCN10A ассоциирован с предрасположенностью к развитию идиопатического СССУ

Purpose: To study association of rs6795970 polymorphism of SCN10A gene with development of idiopathic sick sinus syndrome (ISSS). Materials and methods. We examined 109 patients with ISSS, 59 their healthy 1-st-, 2-nd-, and 3-rd-degree relatives, and 630 controls. Patients with ISSS were divided into subgroups according to gender and clinical variant of the disease. All patients underwent cardiologic examination and molecular genetic testing of DNA. Results. We revealed significant preponderance of homozygous genotype with rare allele of the studied gene among patients with ISSS compared with control group. In addition, this genotype significantly prevailed among men with SSSU in comparison with the control group. Conclusion. Genotype AA of the SCN10A gene is associated with a predisposition to the development of ISSS.

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