medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-303Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHАнализ ассоциаций полиморфных вариантов rs2289263 и rs6494629 гена SMAD3 с интракраниальными аневризмамиThe role of polymorphic variants of rs 2289263 and rs 6494629 with intracranial aneurysmsСултановаР. И.SultanovaR. I.noemail@neicon.ruХусаиноваР. И.KhusainovaR. I.noemail@neicon.ruЛебедеваЕ. Р.LebedevaE. R.noemail@neicon.ruБусыгинаА. В.BusyginaA. B.noemail@neicon.ruХуснутдиноваЭ. К.KhusnutdinovaE. K.noemail@neicon.ruФГБОУ ВПО Башкирский государственный университетРоссияBashkir State UniversityRussian FederationФГБОУ ВПО Башкирский государственный университет; ФГБУН Институт биохимии и генетики УНЦ РАНРоссияBashkir State University; Institute of Biochemistry and GeneticsRussian FederationФГБОУ ВО Уральский государственный медицинский университет; Международный центр лечения головных болей Европа-АзияРоссияThe Urals State Medical University; International Headache Center «Europe-Asia»Russian FederationМеждународный центр лечения головных болей Европа-АзияРоссияInternational Headache Center «Europe-Asia»Russian Federation2017200220181662128Copyright © Султанова Р.И., Хусаинова Р.И., Лебедева Е.Р., Бусыгина А.В., Хуснутдинова Э.К., 20182018Султанова Р.И., Хусаинова Р.И., Лебедева Е.Р., Бусыгина А.В., Хуснутдинова Э.К.Sultanova R.I., Khusainova R.I., Lebedeva E.R., Busygina A.B., Khusnutdinova E.K.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/303

Интракраниальная аневризма (ИА) - это гетерогенное заболевание многофакторной природы, приводящее к спонтанным субарахноидальным кровоизлияниям, в основе которого лежат патологические локальные выпячивания стенок артериальных сосудов мозга из-за изменений в строении сосудистой стенки. Проведен поиск ассоциаций полиморфных вариантов rs2289263 и rs6494629 гена SMAD3 с развитием ИА с учетом наличия симптомокомплекса недифференцированной дисплазии соединительной ткани (НДСТ). Генотип *С*С локуса rs 6494629 является маркером повышенного риска ИА у женщин с НДСТ (p = 0,03; c2 = 4,3; OR = 2,38; 95% ДИ 1,03-5,48), Аллель *С и генотип * С*С полиморфного варианта rs2289263 ассоциирован с ИА у мужчин с артериальной гипертензией (АГ) (p = 0,03; c2 = 4,5; OR = 1,73, 95% ДИ 1,04-2,87 и p = 0,03; c2 = 4,4; OR = 2,19, 95% ДИ 1,04-4,59 соответственно).

Intracranial aneurysm (IA) - a heterogeneous multifactorial disease, resulting in spontaneous subarachnoid hemorrhage, which is based on pathological local diverticulum of walls in arterial blood vessels of the brain. A search for associations of SMAD3 gene rs2289263 and rs6494629 polymorphic variants with the development of IA taking into account symptoms of undifferentiated connective tissue dysplasia (UCTD). The *C*C genotype of rs6494629 proved to be a marker of increased risk of IA with UCTD in women (p = 0,03; c2 = 4,3; OR = 2,38; 95% CI 1,03-5,48), *C allele and * C*C genotype of rs2289263 is associated with IA with arterial hypertension (AH) in men (p = 0,03; c2 = 4,5; OR = 1,73, 95% CI 1,04-2,87 and p = 0,03; c2 = 4,4; OR = 2,19, 95% CI 1,04-4,59, respectively).

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