Comparative analysis of associations between polymorphic variants of the F2, F5, GP1BA, and ACE genes and the risk of developing stroke in Russian and Ukrainian populations

Tupitsyna, T. V.; Bondarenko, Elena; Kravchenko, S. A.; Tatarskyy, Pavel; Шетова, И. М.; Shamalov, Nikolay; Кузнецова, С.М.; Шульженко, Д В; Skvortsova, Veronica I.; Slominsky, P. A.; Лившиц, Л. А.; Limborska, Svetlana A.

doi:10.3103/s0891416813010072

Cited by 3 publications

(2 citation statements)

References 30 publications

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“…Выполненные исследования показали, что в развитии первого ИИ важную роль играют генетические факторы, контролирующие процессы коагуляции и тромбообразования, обмена липидов, активацию ренин-ангиотензиновой системы, функционирование антиокислительной системы и др. [6][7][8]. Несмотря на многочисленные работы по поиску новых полиморфизмов генов, определяющих многофакторную предрасположенность к ИИ, проблема далека от завершения.…”

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Assessment of the Polymorphic Genes Variants of the Lipid and Carbohydrate Metabolism, Vascular Inflammation and Neurotransmitter System in the First Ischemic Stroke

Шишкова¹,

Ременник²,

Валяева³

et al. 2017

Kardiovask. ter. profil.

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Материал и методы. Исследованы частоты аллелей и генотипов для 20 однонуклеотидных полиморфных вариантов генов у 435 паци ентов, которые перенесли первый ИИ и 229 человек, не переносив ших инсульт, соответствующих по полу, возрасту, месту проживания и национальности группе пациентов. Генотипирование полиморфиз мов проводили с использованием готовых зондов TaqMan. Результаты. Для полиморфизмов АРОВ (rs676210) и IL8 (rs1803205) было получено значимое различие между группами в распределе нии минорных аллелей и генотипов. Заключение. Обнаружена достоверная связь между однонуклео тидными полиморфизмами генов АРОВ (rs676210) и IL8 (rs1803205) с развитием первого ИИ в изучаемых группах. Ключевые слова: ишемический инсульт, генетика ишемического инсульта, полиморфизм генов.

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Assessment of the Polymorphic Genes Variants of the Lipid and Carbohydrate Metabolism, Vascular Inflammation and Neurotransmitter System in the First Ischemic Stroke

Шишкова¹,

Ременник²,

Валяева³

et al. 2017

Kardiovask. ter. profil.

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“…Our department activity is also focused on the analysis of genome polymorphic variants of affected individuals with cardio-vascular pathologies. It was established that mutant variant 677Ò of MTHFR gene, D allele (deletion) of ACE gene and polymorphic variant 20210A of F2 gene are the genetic markers of the ischemic stroke increased risk [23,24].…”

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Human genome mutation and rearrangement studies – the way to investigate monogenic and complex disease pathogenesis

et al. 2013

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The summarized results of 25-year studies of department of human genomics of IMBG NASU are presented. The investigations were focused on identification of molecular genetic nature of human genome coding and non-coding region mutations (genetic polymorphisms) and rearrangements, their spectrum, and origin in Ukrainian population. The role of genome heterogeneity in some severe monogenic and complex disorder pathogenesis has been shown. The data concerning correlation between certain determinator gene mutations and phenotypical manifestation of most common in Ukraine monogenic diseases have been demonstrated. Moreover, the role of modifying genes in specific clinical phenotype variations has been shown. Origin of particular mutant alleles and main mechanisms of their frequency maintenance in Ukrainian population have been investigated. The data about association of some polymorphic variants with infertility, cardiovascular diseases (ischemic stroke) as well as mass infectious diseases (hepatitis C, AIDS) outcome and standard therapy efficiency have been presented. The first results and prospects for candidate genes of neurodegenerative disorders and intellectual disability search using whole genome CNVs screening are shown.

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Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta‐Analysis

Chiasakul

Jesus

Tong

et al. 2019

JAHA

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BackgroundInherited thrombophilias are well‐established predisposing factors for venous thromboembolism, but their role in arterial thrombosis, such as arterial ischemic stroke, remains uncertain. We aimed to evaluate the association between inherited thrombophilia (factor V Leiden, prothrombin G20210A mutation, protein C deficiency, protein S deficiency, and antithrombin deficiency) and risk of arterial ischemic stroke in adults.Methods and ResultsWe searched PubMed, EMBASE, and Cochrane Library Databases from inception to December 31, 2018. We included case‐control or cohort studies of adults reporting the prevalence of inherited thrombophilias in those with arterial ischemic stroke and subjects without arterial ischemic stroke. Two reviewers (T.C., E.D.) independently searched the literature and extracted data. Pooled odds ratios (ORs) and 95% CIs were calculated using random‐effects model. We identified 68 eligible studies, which collectively enrolled 11 916 stroke patients and 96 057 controls. The number of studies reporting factor V Leiden, prothrombin G20210A mutation, protein C deficiency, protein S deficiency, and antithrombin deficiency were 56, 45, 15, 17, and 12, respectively. Compared with controls, patients with arterial ischemic stroke were significantly more likely to have the following inherited thrombophilias: factor V Leiden (OR, 1.25; 95% CI, 1.08–1.44; I2=0%), prothrombin G20210A mutation (OR, 1.48; 95% CI, 1.22–1.80; I2=0%), protein C deficiency (OR, 2.13; 95% CI, 1.16–3.90; I2=0%), and protein S deficiency (OR, 2.26; 95% CI, 1.34–3.80; I2=8.8%). Statistical significance was not reached for antithrombin deficiency (OR, 1.25; 95% CI, 0.58–2.67; I2=8.8%).ConclusionsInherited thrombophilias (factor V Leiden, prothrombin G20210A mutation, protein C deficiency, and protein S deficiency) are associated with an increased risk of arterial ischemic stroke in adults. The implications of these findings with respect to clinical management of patients with ischemic stroke require further investigation.

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Comparative analysis of associations between polymorphic variants of the F2, F5, GP1BA, and ACE genes and the risk of developing stroke in Russian and Ukrainian populations

Cited by 3 publications

References 30 publications

Assessment of the Polymorphic Genes Variants of the Lipid and Carbohydrate Metabolism, Vascular Inflammation and Neurotransmitter System in the First Ischemic Stroke

Assessment of the Polymorphic Genes Variants of the Lipid and Carbohydrate Metabolism, Vascular Inflammation and Neurotransmitter System in the First Ischemic Stroke

Human genome mutation and rearrangement studies – the way to investigate monogenic and complex disease pathogenesis

Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta‐Analysis

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