ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМПymj-2429Research ArticleГЕНЕТИКА МУЛЬТИФАКТОРИАЛЬНЫХ ЗАБОЛЕВАНИЙGENETICS OF MULTIFACTORIAL DISEASESПолиморфизм некоторых генов системы гемостаза и геморрагический инсульт у якутовPolymorphism of some genes of hemostasis system and hemorrhagic stroke in YakutsЧугуноваС. А.ChugunovaS. A.

Чугунова Саргылана Афанасьевна – м.н.с.;

врач-невролог ЦЭМП высшей квалиф. категории

sargyc@mail.ruСудомоинаМ. А.SudomoinaM. A.

Судомоина Марина Анатольевна – к.б.н., с.н.с., доцент

г. Москва

НиколаеваТ. Я.NikolaevaT. Ya.

Николаева Татьяна Яковлевна – д.м.н., зав. кафедрой

ПарфеновМ. Г.ParfenovM. G.

Парфенов Михаил Григорьевич – к.б.н., м.н.с.

г. Москва

МакарычеваО. Ю.MakarychevaO. J.

Макарычева Ольга Юрьевна – аспирант

Москва

ГехтА. Б.GehtA. B.

Гехт Алла Борисовна – д.м.н., проф.

г. Москва

ФавороваО. О.FavorovaO. O.

Фаворова Ольга Олеговна – д.б.н., проф., зав. кафедрой

г. Москва

ЯНЦ КМП СО РАМН; РБ№2Russian FederationГОУ ВПО “Российский государственный медицинский университет” РосздраваRussian FederationМИ ЯГУRussian FederationФГУ “Российский кардиологический научно-производственный комплекс” РосмедтехнологийRussian Federation20092710202502105107Copyright © Чугунова С.А., Судомоина М.А., Николаева Т.Я., Парфенов М.Г., Макарычева О.Ю., Гехт А.Б., Фаворова О.О., 20252025Чугунова С.А., Судомоина М.А., Николаева Т.Я., Парфенов М.Г., Макарычева О.Ю., Гехт А.Б., Фаворова О.О.Chugunova S.A., Sudomoina M.A., Nikolaeva T.Y., Parfenov M.G., Makarycheva O.J., Geht A.B., Favorova O.O.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/2429

Впервые для якутской популяции проведен анализ вклада аллелей генов системы гемостаза, кодирующих альфа-фибриноген (FGA), бета-фибриноген (FGB) и тканевой активатор плазминогена (TPA), в генетическую предрасположенность к геморрагическому инсульту (ГИ) и в особенности его клинического течения. У больных ГИ по сравнению с контрольной группой выявлено значимое повышение частоты носительства генотипа FGA4266 А/А: 26,9% против 16,1% (p=0,04, ОШ=1,9, ДИ 1,0 - 3,8) и, соответственно, понижение частоты носительства аллеля FGA4266G 73,1% против 83,9% (p=0,04, ОШ=0,5, ДИ 0,3 - 1,0). Выявлено триаллельное сочетание FGB−249C; FGA4266G; TPA−7351C, частота носительства которого значимо различается у больных ГИ с разным типом гематомы.

For the first time an analysis of contribution of alleles of haemostasis genes, encoding fibrinogen alpha (FGA), fibrinogen beta (FGB) and tissue plasminogen activator (TPA), in genetic susceptibility to and clinical aspects of hemorrhagic stroke (HS) was performed in ethnic Yakuts. HS patients compared to controls demonstrated significant increase of frequency of FGA4266А/А genotype carriage: 26,9% vs 16,1% (p=0,04, OR=1,9, CI 1,0 - 3,8) and corresponding decrease of FGA4266G allele carriage: 73,1% vs 83,9% (p=0,04, OR =0,5, CI 0,3 - 1,0). We identified tri-allelic combination: FGB−249C; FGA4266G; TPA−7351C, which carriage is significantly differed in HS patients with different types of haemorrhage.

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