Polymorphisms in the activin A receptor type 2A gene affect the onset time and severity of preeclampsia in the Turkish population.

Aim: To investigate the possible roles of selected single nucleotide gene polymorphisms (SNPs) of the activin A receptor type 2A (ACVR2A) gene in the pathogenesis of preeclampsia.

Methods: Ninety-four patients with preeclampsia and 166 healthy pregnant women were included in this study. Genomic DNA was extracted from venous blood and were stored at -80°C before the analysis. Selected ACVR2A SNPs (rs10497025, rs1128919, rs13430086) were determined in an ABI 7900 HT Real-Time PCR instrument.

Results: For all three SNPs, no statistically significant difference was found between preeclampsia and control groups in terms of genotype and allele frequencies. In the late preeclampsia group, with regard to the rs1128919 SNP, the frequency of GG genotype was found to be significantly lower (P=0.02). Although the frequency of "A" allele was found to be higher (P=0.05; OR=1.54), and the "G" allele was found to be lower (P=0.05; OR=0.65), the results did not reach statistical significance in late preeclamptic patients. For the rs1128919 SNP, the frequency of the AA genotype was found to be significantly higher in both mild (P=0.004) and severe (P=0.0001) preeclampsia groups, whereas the frequency of GG genotype was found to be significantly lower (P=0.008, and P=0.0001, respectively). For the rs13430086 SNP, while the frequency of the AA genotype was found to be significantly lower in both mild (P=0.02) and severe (P=0.0001) preeclamptic patients, the frequency of TT genotype was found to be significantly higher in only severe preeclampsia group (P=0.0001).

Conclusion: ACVR2A gene polymorphisms may play a role in the development of preeclampsia.