A tag SNP in syncytin-2 3-UTR significantly correlates with the risk of severe preeclampsia

Background Preeclampsia is a disease that frequently complicates pregnancy and poses a serious threat to maternal and fetal health. The causes and pathogenic mechanisms of preeclampsia are poorly defined. Genetic predisposition could be an important etiological factor. Previous studies have demonstrated that syncytin-1 and syncytin-2, encoded by the genes ERVWE1 and ERVFRDE-1, are involved in the pathogenesis of preeclampsia. Methods In this study, we applied multiplex PCR and MALDI-TOF MS techniques to analyze six selected tag SNPs of ERVWE1 and ERVFRDE-1 in 120 preeclampsia patients and 181 normal controls. Results One SNP polymorphism (rs9393931) with the recessive TT genotype located in the 3-UTR of ERVFRDE-1 gene was found to be significantly associated with an increased risk of preeclampsia (OR (95% CI) = 2.05 (1.27–3.32); p = 2.8 × 10−3). No significant correlation of this polymorphism with the clinical severity of preeclampsia, e.g. the extent of hypertension, was detected between carrier and non-carrier patients. Conclusions These results suggested that genetic predisposition in ERVFRDE-1 may be associated with an increased risk of preeclampsia. This polymorphism is possibly involved in the regulation of syncytin-2 expression in preeclamptic placenta.