P05.01: Associations of “endothelial dysfunction” genes polymorphism in pregnancy‐induced hypertension among Uzbek women: a case‐control study

Abstract

Examine genetic polymorphisms associated with the risk of pregnancy-induced hypertension among Uzbek women. A total of 78 cases of pre-eclampsia (PE) patients and 26 healthy pregnant female controls were recruited from the Republican Specialised Scientific and Practical Medical Centre of Ob&Gyn in Uzbekistan. Polymorphisms of 5 genes responsible for «endothelial dysfunction» were examined in this study: endothelial nitric oxide synthase NOS3: -786T>C (rs2070744) and 894 G>T (rs1799983); aldosterone synthase CYP11B2 C-344T (rs1799998); angiotensin II receptor type 1 AGTR1 (rs5186) and guanine-binding protein GNB3 C825T (rs5443). There was disequilibrium on Hardy-Weinberg's test in 2 polymorphism (rs1799983) and rs5443 among estimated 5 polymorphism only in control group. Distribution of allele frequencies of genotypes for polymorphism rs1799983, rs1799998, rs5443 genes in PE and in control group revealed presence of risk and protective markers for this disease. Thus, the relative risk of the G allele and GG genotype polymorphism rs1799983 amounted to 2,55 and 4,34; while T allele of the polymorphism can be regarded as a protective marker in the development of this pathology. There was a significant increase in the frequency of mutant allele T polymorphism rs1799998 gene of aldosterone synthase in PE women compared to controls. Frequencies of allele and genotype polymorphisms of rs2070744, rs5186 and rs5443 statistically have no difference in this study. Comparison of haplotype frequencies of polymorphisms rs2070744 and rs1799983 between patients with PE and the control group showed a risky haplotype TG and the protective haplotype CT. For other haplotypes statistically significant differences were not found. Genetic associations performed in this study may be used as genetic markers of PE susceptibility. It can allow to group risk patients, to work out preventive measures. But, the large studies or meta-analysis are required to confirm these findings.