PhD in Medical sciences Chita State Medical Academy, Russia Chita, Zabaykalsky, Russia
Background: Currently, most scientific studies argue that a hereditary predisposition to thrombus formation has long been possible to distinguish as an independent group of etiological factors among the causes of miscarriage and other diseases in obstetric and gynecological practice. The most important genetic markers of thrombophilia are allelic variants of the hemostasis and folate metabolism genes.
Aims: The purpose of this study is to analyze the frequency of occurrence of gene polymorphisms of the hemostasis system and folate metabolism based on the results of patients in Transbaikalia.
Methods: PCR analysis of polymorphism of 12 genes associated with thrombophilia in 1800 women aged 20 to 60 years with complications of reproductive health was carried out.
Results: The most frequent genes in the study group were polymorphic variants of the genes PAI-1*5G/675/4G (5G/4G-49.6% and 4G/4G-32.4%) and ITGA2*C807T (C/T-48.2% and T/T-13.2%), as well as MTRR*A66G (A/G-54.3% and G/G-22.6%) and MTHFR*A1298C (A/C-43.4% and C/C-9.7%). It is also important to note the prevalence of combined defects as compared to single ones among all detected cases of mutation carriage, both in the hemostasis system and in folate metabolism - which amounted to 88% and 81.4%, respectively, namely, double and triple combinations of polymorphic variants. This significantly increases the risk of developing thrombosis. The Leiden mutation FV*G1691A (4.0%) and prothrombin FII*G20210A (2.4%) were much less common.
Conclusion(s): When studying the frequencies of genetic polymorphism of the hemostasis system and the main proteins of the folate cycle in Transbaikalia in women with complications of reproductive health and/or a burdened family thrombotic history, a rather high prevalence of mutant genotypes of polymorphism of genes of the hemostasis and folate system was revealed associated with the risk of thrombophilia, including the highest risk FII and FV.
