vavilovВавиловский журнал генетики и селекцииVavilov Journal of Genetics and Breeding2500-3259Institute of Cytology and Genetics of Siberian Branch of the RAS10.18699/VJ18.442vavilov-1801Research ArticleМЕДИЦИНСКАЯ ГЕНЕТИКАMEDICAL GENETICSАнализ ассоциаций полиморфных вариантов гена фактора В роста эндотелия сосудов (VEGFB) с развитием интракраниальных аневризмAssociation of vascular endothelial growth factor B (VEGFВ) gene polymorphisms with intracranial aneurysmshttps://orcid.org/0000-0002-5158-0880СултановаР. И.SultanovaR. I.r-ka_@mail.ruhttps://orcid.org/0000-0002-8643-850XХусаиноваР. И.KhusainovaR. I.https://orcid.org/0000-0003-2463-7113ЛебедеваЕ. Р.LebedevaE. R.https://orcid.org/0000-0003-0441-5169ЯнкинаМ. А.YankinaM. A.https://orcid.org/0000-0003-1040-5696ГилевД. В.GilevD. V.https://orcid.org/0000-0003-2987-3334ХуснутдиноваЭ. К.KhusnutdinovaE. K.Башкирский государственный университет; Республиканский медико-генетический центрРоссияBashkir State University; Republican Medical Genetics CenterRussian FederationБашкирский государственный университет; Институт биохимии и генетики – обособленное структурное подразделение Уфимского федерального исследовательского центра Российской академии наук; Республиканский медико-генетический центрРоссияBashkir State University; Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre, RAS; Republican Medical Genetics CenterRussian FederationУральский государственный медицинский университет; Международный центр лечения головных болей «Европа-Азия»РоссияUral State Medical University; International Center for the Treatment of Headaches “Europe-Asia”Russian FederationИнститут биохимии и генетики – обособленное структурное подразделение Уфимского федерального исследовательского центра Российской академии наукРоссияInstitute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre, RASRussian FederationУральский федеральный университетРоссияUral Federal UniversityRussian Federation201801012019228992999Copyright © Султанова Р.И., Хусаинова Р.И., Лебедева Е.Р., Янкина М.А., Гилев Д.В., Хуснутдинова Э.К., 20192019Султанова Р.И., Хусаинова Р.И., Лебедева Е.Р., Янкина М.А., Гилев Д.В., Хуснутдинова Э.К.Sultanova R.I., Khusainova R.I., Lebedeva E.R., Yankina M.A., Gilev D.V., Khusnutdinova E.K.This work is licensed under a Creative Commons Attribution 4.0 License.https://vavilov.elpub.ru/jour/article/view/1801

Интракраниальная аневризма (ИА) – тяжелое заболевание, приводящее вследствие разрыва аневризмы к субарахноидальным кровоизлияниям (САК). Распространенность этого заболевания в мире составляет в среднем около 2–5 %, из которых 50 % случаев заканчиваются летальным исходом либо неврологическими расстройствами различной степени тяжести, с высокой вероятностью рецидива кровоизлияния в течение первого полугодия после разрыва аневризмы. В России субарахноидальные кровоизлияния ежегодно регистрируют не менее чем у 18 тыс. человек. Проведен поиск ассоциаций полиморфных вариантов rs594942 и rs11603042 гена VEGFB с развитием интракраниальных аневризм у жителей ВолгоУральского региона Российской Федерации с учетом наличия симптомокомплекса недифференцированной дисплазии соединительной ткани (нДСТ) и артериальной гипертензии (АГ). Аллель С* rs594942 и rs11603042 гена VEGFB является маркером повышенного риска развития ИА в целом (p = 0.025; χ2 = 5.052; OR = 1.32), а также у женщин в общей выборке (p = 0.001; χ2 = 10.124; OR = 1.70) и в коморбидном состоянии с нДСТ (p = 0.002; χ2 = 9.501; OR = 2.34) и АГ (p = 0.006; χ2 = 7.385; OR = 2.109). Обнаружено, что генотип *С*С локуса rs594942 ассоциирован с риском развития ИА в общей группе (p = 0.017; χ2 = 5.702; OR = 1.49), а также у женщин с ИА (p = 0.0005; χ2 = 12.078; OR = 2.25) и с симптомокомплексом нДСТ (p = 0.007; χ2 = 7.173; OR = 2.67) и АГ (p = 0.010; χ2 = 6.471; OR = 2.51). Генотип *Т*Т rs594942 и rs11603042 гена VEGFB снижает риск развития ИА в сочетании с нДСТ и АГ (p = 0.014; χ2 = 6.013; OR = 0.10). Нами получены новые результаты о роли полиморфных вариантов гена VEGFВ в формировании интракраниальных аневризм с учетом наличия симптомокомплекса недифференцированной дисплазии соединительной ткани и артериальной гипертензии у жителей Волго-Уральского региона России. Отягощенный коморбидный фон и наличие нДСТ и АГ могут способствовать повышенному риску развития интракраниальных аневризм, что подтверждается результатами нашего исследования.

Intracranial aneurysm (IA) is a complex disease resulting in subarachnoid hemorrhage (SAH) due to a rupture. The average worldwide prevalence of this disease is about 2–5 %, with 50 % of them ending in death or neurological disorders of varying severity, with a high probability of recurrence of hemorrhage during the frst half of the year after rupture. Subarachnoid hemorrhage is annually registered in at least 18 thousand people in Russia. Associations of polymorphic variants rs594942 and rs11603042 of the VEGFB gene in intracranial aneurysm development in the Volga-Ural region of the Russian Federation with the presence of the symptom complex of undifferentiated connective tissue dysplasia (uDST) and arterial hypertension (AH) were investigated. The C* allele rs594942 and rs11603042 of the VEGFB gene is a marker of an increased risk of IA as a whole (p = 0.025; χ2 = 5.052; OR = 1.32) in women as a whole (p = 0.001; χ2 = 10.124; OR = 1.70) and in comorbid state with uDCT (p = 0.002; χ2 = 9.501; OR = 2.34) and AG (p = 0.006; χ2 = 7.385; OR = 2.109). We found that the genotype *C*C of locus rs594942 of the VEGFB gene is a marker of an increased risk of intracranial aneurysm in general (p = 0.017; χ2 = 5.702; OR = 1.49) and among women in general (p = 0.0005; χ2 = 12.078; OR = 2.25) and with the symptomatic complex uCTD (p = 0.007; χ2 = 7.173; OR = 2.67) and AH (p = 0.010; χ2 = 6.471; OR = 2.51). We have obtained new results on the role of polymorphic variants of the VEGFB gene in the formation of intracranial aneurysm, taking into account the presence of the symptom complex uDCT and AH among the residents of the Volga-Ural region of Russia. A burdened comorbid background and the presence of undifferentiated connective tissue dysplasia and arterial hypertension can contribute to an increased risk of intracranial aneurysm, as evidenced by the results of our study.

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