Association analysis of MnSOD-Ala16Val genetic variation and the risk of preeclampsia: A case-control study and in silico analysis

Abstract

BackgroundPreeclampsia, a main contributor to maternal mortality worldwide, impacts women beyond 20 weeks of gestation, presenting with elevated blood pressure and proteinuria. The role of oxidative stress in the development of preeclampsia is considerable due to the increased oxygen requirement of placenta. The aim of this study is to evaluate the association between MnSOD-Ala16Val genetic variation and the risk of preeclampsia in a group of pregnant women in accompanying a bioinformatics analysis. Materials and methodsIn this case-control study, 136 pregnant women with preeclampsia vs. 173 healthy women without any history of known diseases as control group, were selected from cases who have referred to the Shahid Beheshti hospital of Kashan (Isfahan province, Iran). After sampling and DNA extraction, MnSOD-Ala16Val polymorphism was evaluated using PCR-RFLP for genotype assessment. Eventually, some bioinformatics tools were used for evaluation of the above-mentioned polymorphism on gene function. ResultsOur data illustrate the association between CT heterozygote genotype of MnSOD-Ala16Val polymorphism with enhanced risk of susceptibility to preeclampsia (OR = 1.865, 95%CI = 1.03–3.37, p = 0.039). Indeed, bioinformatics analysis demonstrated the significant impact of the above mentioned polymorphism on the structure of protein (Score: 49, Expected accuracy: 71%) and RNA (Distance: 0.1815, p-value: 0.1676; A p-value <0.2 is significant). ConclusionsAs a preliminary study, our findings suggest a potential association between the MnSOD-Ala16Val polymorphism and the risk of preeclampsia. However, more investigations with a larger sample size and in different ethnicities are essential for achievement of more precise outcomes.