Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research 6-том 5-сан (2025)
GENETIC MARKERS OF THROMBOPHILIA AS A TOOL FOR PREDICTION AND RISK STRATIFICATION OF CEREBROVASCULAR DISEASES IN WOMEN
Рахматуллаева Гулнара Кутпитдиновна, Кадырова Азиза Шавкатовна
Аннотация
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.
ишемический инсульт; женщины; тромбофилия; генетические маркеры; MTHFR; F5; F2; PAI-1; прогностическая ценностьischemic stroke; women; thrombophilia; genetic markers; MTHFR; F5; F2; PAI-1; prognostic value.ishemik insult; ayollar; trombofiliya; genetika markerlari; MTHFR; F5; F2; PAI-1; prognostik qiymat.
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