Ying Hua1, Jing Wang2, Dong-Lan Yuan3, Yaozhi Qi4, Zuoqing Tang2, Xueqiong Zhu5, Shi-Wen Jiang6. 1. Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children of Wenzhou Medical University, Wenzhou 325027, China. 2. Department of Medical Genetics, School of Basic Medical Sciences, Capital Medical University, Beijing 100069, China. 3. Department of Gynecology, Beijing Obstetrics and Gynecology, Taizhou People's Hospital, Taizhou 225300, Jiangsu, China. 4. Department of Clinical Laboratory, Lianyungang, Maternal and Child Health Hospital, Jiangsu 222005, China. 5. Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children of Wenzhou Medical University, Wenzhou 325027, China. Electronic address: zjwzzxq@163.com. 6. Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children of Wenzhou Medical University, Wenzhou 325027, China; Department of Biomedical Science, Mercer University School of Medicine, Savannah, GA 31404, USA. Electronic address: jiang_s@mercer.edu.
Abstract
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.
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.