Abstract
Objective Preeclampsia (PE) is a severe complication in pregnancy and a leading cause of maternal and infant mortality. However, the exact underlying etiology of PE remains unknown. Emerging evidence indicates that the cause of PE is associated with genetic factors. Therefore, the aim of this study is to identify susceptibility genes to PE. Materials and Methods Human Exome BeadChip assays were conducted using 370 cases and 482 controls and 21 loci were discovered. A further independent set of 958 cases and 1007 controls were recruited for genotyping to determine whether the genes of interest ROS1 and PTPRK are associated with PE. Immunohistochemistry was used for localization. Both qPCR and Western blotting were utilized to investigate the levels of PTPRK in placentas of 20 PE and 20 normal pregnancies. Results The allele frequency of PTPRK rs3190930 differed significantly between PE and controls and was particularly significant in severe PE subgroup and early-onset PE subgroup. PTPRK is primarily localized in placental trophoblast cells. The mRNA and protein levels of PTPRK in PE were significantly higher than those in controls. Conclusion These results suggest that PTPRK appears to be a previously unrecognized susceptibility gene for PE in Han Chinese women, and its expression is also associated with PE, while ROS1 rs9489124 has no apparent correlation with PE risk.
Highlights
Preeclampsia (PE) is a severe complication in pregnancy and a leading cause of maternal and infant mortality; the worldwide PE incidence is 5–10% [1, 2]
Emerging evidence indicates that the cause of PE is associated with genetic factors since it was first expounded in the early 1960s [3, 4]
All samples were collected from the First Affiliated Hospital of Nanjing Medical University, the Second Affiliated Hospital of Nanjing Medical University, and the Provincial Hospital Affiliated to Shandong University from December 2009 to February 2015. e controls were randomly selected from contemporaneous normotensive women without antenatal medical or obstetric complications and who delivered a healthy neonate at term (>37 weeks of gestation)
Summary
Preeclampsia (PE) is a severe complication in pregnancy and a leading cause of maternal and infant mortality; the worldwide PE incidence is 5–10% [1, 2]. Emerging evidence indicates that the cause of PE is associated with genetic factors since it was first expounded in the early 1960s [3, 4]. Studies have shown that the general heritability of PE is estimated to be about 55%, of which 35% is considered to be caused by maternal genetic factors, and 20% by fetal genetics [10]. Paternal obesity is the same as maternal obesity as a risk factor for PE [10]. There is convincing evidence that the lead risk SNP rs4769613 from fetal Fms-like tyrosine kin (FLT1) is a risk factor for PE [12]. Erefore, a variety of candidate genes need to be investigated to identify the underlying causes of PE development The present results remain controversial [13]. e genetic architecture behind PE is complex, as it includes maternal and fetal genes, genetically unfavorable combinations of maternal leukocyte receptors and fetal antigens, paternal factors, and any genetic conflict between the parents [11, 14, 15]. erefore, a variety of candidate genes need to be investigated to identify the underlying causes of PE development
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