Association between 3'UTR polymorphisms in genes ACVR2A, AGTR1 and RGS2 and preeclampsia

Preeclampsia (PE) is a pregnancy specific disease with several risk factors such as genetic polymorphisms, environmental and social factors participating in its development. The aim of this study was to investigate whether distribution of three putative regulatory SNPs rs13430086, rs5186, rs4606 in 3'UTR of genes ACVR2A, AGTR1 and RGS2, respectively, that have been associated with hypertension and regulation of trophoblast invasion differ between women with PE and control group. The associations of rs13430086, rs5186 and rs4606 with preeclampsia were tested in two groups - the group of 50 women with PE and the control group of 42 healthy pregnant women at term. DNA was isolated from blood samples and the determination of genotypes was performed using Real-Time PCR. Power analysis for the size of the cohort was performed and the results were analyzed using Fisher exact test. The AA genotype of ACVR2A rs13430086 was significantly associated with higher risk to preeclampsia compared with TT genotype (p = 0.026, OR: 5.39, 95%CI: 1.21-31.54). Results showed no association between genotypes and preeclampsia for polymorphisms rs5186, rs4606. Further studies are important in order to better understand the role of ACVR2A in the pathogenesis of PE.