GENETIC MARKERS OF THROMBOPHILIA AS A TOOL FOR PREDICTION AND RISK STRATIFICATION OF CEREBROVASCULAR DISEASES IN WOMEN
Keywords:
ischemic stroke; women; thrombophilia; genetic markers; MTHFR; F5; F2; PAI-1; prognostic value.Abstract
Objective. To evaluate the prognostic significance of genetic markers of thrombophilia in the development of ischemic stroke in women, taking into account age stratification.
Materials and Methods. A total of 97 women aged 24 to 74 years with acute ischemic stroke were examined. The study included clinical and neurological assessment, laboratory and coagulation testing, and molecular genetic analysis of the polymorphisms MTHFR C677T, F5 G1691A, F2 G20210A, and PAI-1 675 4G/5G. The control group comprised 30 conditionally healthy women without signs of cerebrovascular pathology. Statistical analysis included the χ² test, odds ratio (OR) with confidence intervals, and ROC analysis (AUC, sensitivity, specificity).
Results. In young women, carriage of thrombophilic variants was more frequent: MTHFR (T/T – 44%), F2 (A/A – 42%), and F5 (A/A – 17%), which were associated with elevated D-dimer levels (456.11 ± 83.29 ng/mL) and episodes of transient ischemic attacks. In the elderly group, vascular–metabolic factors predominated (arterial hypertension – 100%, diabetes mellitus – 59%, atherosclerosis – 66%). The MTHFR C677T and PAI-1 675 4G/5G polymorphisms demonstrated high prognostic value in ROC analysis (AUC > 0.70). The combination of genetic and clinical–laboratory predictors revealed age-specific features of stroke pathogenesis in women.
Conclusions. Genetic markers of thrombophilia have significant prognostic value in assessing the risk of stroke in women, especially in younger age groups. Age stratification improves predictive accuracy and substantiates the need for a personalized approach to prevention and therapy.
References
Абдуллаева Ш.Р., Ахмедова Н.Э. Цереброваскулярные заболевания у женщин: клинико-генетический анализ. Journal of Biomedicine and Practice. 2022;7(1):150–156.
Абдурахманова Н.М., Туляганова Д.К. Факторы риска инсульта у женщин репродуктивного возраста. O‘zbekiston Tibbiyot Jurnali. 2021;5:22–27.
Кадырова А.Ш., Рахматуллаева Г.К., Мирзаева К.С. Анализ риска возникновения острого нарушения мозгового кровообращения на фоне беременности. Журнал неврологии и нейрохирургических исследований. 2023;3:38–41.
Маматкулова Г.И., Касымова Ф.Ш. Артериальная гипертензия и инсульт у женщин. Medicus. 2020;2:65–70.
Тураева Д.К., Бекназарова М.С. Дислипидемия и её роль в патогенезе ишемического инсульта. O‘zbekiston Tibbiyot Jurnali. 2018;3:48–52.
Appelros P, Stegmayr B, Terént A. Sex differences in stroke epidemiology: a systematic review. Stroke. 2018;40(4):1082–1090.
DT Hodzhieva, SS Pulatov, DK Hajdarova Vse o gemorragicheskom insulte lic pozhilogo i starcheskogo vozrasta.[All about hemorrhagic stroke of elderly and elderly people] Nauka molodyh-Young Science. 2015. 87-96.
Demarin V, Lisak M, Morović S. Genetic and epigenetic risk factors of stroke. Acta Clin Croat. 2015;51(2):313–318.
Khaydarova Dildora Kadirovna, Xaydarov Nodirjon Kadirovich, Khodjyeva Dilbar Tadjiyevna Clinical basis for the development of neuroprotective therapy in acute ischemic stroke. International Journal of Health Sciences, 4177-4183. 2022
Meschia JF, Bushnell C, Boden-Albala B, et al. Guidelines for the primary prevention of stroke. Stroke. 2017;45(12):3754–3832.
Sacco RL, Kasner SE, Broderick JP, et al. An updated definition of stroke for the 21st century. Stroke. 2018;44(7):2064–2089.
Khaydarova Dildora Kadirovna, Xaydarov Nodirjon Kadirovich, Khodjyeva Dilbar Tadjiyevna Clinical basis for the development of neuroprotective therapy in acute ischemic stroke. International Journal of Health Sciences, 4177-4183. 2022
Slowik A, Borratynska A, Pera J, et al. Genetic risk factors in young adults with ischemic stroke. Acta Neurol Scand. 2020;121(6):358–363.
Sofi F, Abbate R, Gensini GF, Casini A. Accumulation of risk factors and the risk of ischemic stroke: a meta-analysis. Stroke. 2020;41(6):e76–e83.
