medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.1234/XXXX-XXXX-2016-5-61-64medgen-135Research ArticleМЕЖДУНАРОДНАЯ НАУЧНАЯ КОНФЕРЕНЦИЯ МОЛОДЫХ УЧЕНЫХ «АКТУАЛЬНЫЕ ПРОБЛЕМЫ МЕДИЦИНСКОЙ ГЕНЕТИКИ», 29-30 СЕНТЯБРЯ 2016 Г., Г.ТОМСКИсследование ассоциации полиморфных вариантов rs1333040 и rs7865618 хромосомы 9p21 с развитием артериовенозных мальформацийStudy of the association of polymorphic variants rs1333040 and rs7865618 chromosome 9p21 with the development of arteriovenous malformationsЭркиноваС. А.ErkinovaS. A.sarafrozerkinova@gmail.comКиселёвВ. С.KiselyovV. S.noemail@neicon.ruСтрельниковН. В.StrelnikovN. V.noemail@neicon.ruОрловК. Ю.OrlovK. Y.noemail@neicon.ruДубовойА. В.DubovoyA. V.noemail@neicon.ruВоронинаЕ. Н.VoroninaE. N.noemail@neicon.ruФилипенкоМ. Л.FilipenkoM. L.noemail@neicon.ruНовосибирский национальный исследовательский государственный университетРоссияNovosibirsk State University; Institute of Chemical Biology and Fundamental MedicineRussian FederationФедеральный центр нейрохирургииРоссияFederal Neurosurgical CenterRussian FederationЦентр ангионеврологии и нейрохирургии ННИИПК им. академика Мешалкина Е.НРоссияCenter angioneurology and neurosurgery named after Academician Meshalkin E.NRussian FederationНовосибирский национальный исследовательский государственный университет; Институт химической биологии и фундаментальной медицины СО РАНРоссияNovosibirsk State University; Institute of Chemical Biology and Fundamental Medicine; Institute of Chemical Biology and Fundamental MedicineRussian Federation2016071020161556164Copyright © Эркинова С.А., Киселёв В.С., Стрельников Н.В., Орлов К.Ю., Дубовой А.В., Воронина Е.Н., Филипенко М.Л., 20162016Эркинова С.А., Киселёв В.С., Стрельников Н.В., Орлов К.Ю., Дубовой А.В., Воронина Е.Н., Филипенко М.Л.Erkinova S.A., Kiselyov V.S., Strelnikov N.V., Orlov K.Y., Dubovoy A.V., Voronina E.N., Filipenko M.L.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/135

Цель: исследование ассоциации полиморфных вариантов rs1333040 гена CDKN2B и rs7865618 гена CDKN2А с развитием артериовенозных мальформаций (АВМ) у жителей Западно-Сибирского региона России. Материалы и методы. Обследован 191 пациент (124 мужчины и 67 женщины) с диагнозом АВМ головного мозга, подтвержденным МРТ и ЦАГ в клинических центрах г.Новосибирска. Контрольная группа состояла из 480 жителей г.Новосибирска без АВМ. Определение полиморфных вариантов генов проводилось методом ПЦР в режиме реального времени, с использованием конкурирующих TaqMan-зондов. Результаты. Ассоциативный анализ выявил связь полиморфного локуса rs7865618 гена CDKN2A с развитием АВМ (OR = 1,915, CI = [1,158-3,167], р = 0,01). Заключение. Проведенное исследование продемонстрировало, что носительство генотипа GG полиморфного локуса rs7865618 гена CDKN2A ассоциировано с развитием АВМ у жителей России.

The aim of this study was to investigate associations between single nucleotide polymorphisms (SNPs) in rs1333040 gene CDKN2B and rs7865618 gene CDKN2А and risk of BAVM in the residents of the West Siberian region. Method: The study included 191 patients (124 men and 67 women) with brain BAVM`s, confirmed with Magnetic resonance imaging (MRI) and cerebral angiography (CAG) in the clinical centers in Novosibirsk. The control group consisted of 480 residents of Novosibirsk without BAVM. Determination of polymorphic variants of genes was performed by Real Time qPCR using TaqMan-competing probes. Results: We found that the rs7865618 gene CDKN2A is associated with brain arteriovenous malformation (OR = 1,915, CI = [1,158-3,167], р = 0,01). Conclusion: The study showed that the genotype of GG rs7865618 polymorphic locus in CDKN2A is associated with the risk of BAVM in the West Siberians.

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