Genetic aspects of acute cerebrovascular accident in severe preeclampsia in the Kazakh population

Abstract

Relevance. Acute cerebrovascular accident (ACVA) in severe preeclampsia (PE) during pregnancy is recognized as a severe complication of pregnancy, childbirth, and the postpartum period, leading to increased maternal and perinatal morbidity and mortality.

Objective. To study the associations of 20 polymorphic loci of genes involved in coagulation and fibrinolysis, angiogenesis and endothelial dysfunction, immune response, lipid metabolism, and GWAS-associated loci with the risk of developing ACVA in severe PE. Methods. A DNA study was conducted on 103 Kazakhstani female patients with ACVA in PE (40 of whom (38.8%) had a fatal outcome) and 104 Kazakhstani women with severe PE in the comparison group. Genotyping of polymorphic loci was performed using real-time polymerase chain reaction.

Results. Significant associations (р<0.05) were identified for genotypes of five gene polymorphisms: coagulation (FV, FII); angiogenesis and endothelial dysfunction (PGF); immune response (TLR4, PLECHA1), with a high risk of developing ACVA in PE. The presence of an unfavorable heterozygous or homozygous genotype increases the risk of developing acute cerebrovascular accident in severe preeclampsia during pregnancy by 3.5 to 8.4 times.

Conclusion. The identified genetic associations enable the prediction of the development and severity of ACVA in PE, the formation of high-risk groups, the prevention of disease progression, and the personalization of therapy to prevent adverse outcomes for both mother and fetus.