Characterization of human Pregnancy Specific Glycoprotein (Psg) gene copy number variations in pre-eclampsia patients

Abstract

Pre-eclampsia is a pregnancy-specific hypertensive disorder that affects 2-8% of pregnancies. This disorder can lead to seizure, multi-organ failure and maternal death. The best approach to prevent pre-eclampsia-associated adverse outcomes is to be able to prevent pre-eclampsia as early as possible. Unfortunately, current diagnostic methods are ineffective at predicting the risk of pre-eclampsia during early pregnancy. In humans, low levels of a group of placenta-derived Pregnancy Specific Glycoproteins (PSGs) have been associated with intrauterine growth retardation and pre-eclampsia and there is a significant enrichment of cases with deletions in the PSG gene locus in pre-eclampsia patients. Based on these observations, we hypothesize that genomic variations at human PSG locus of maternal and/or fetal genomes may confer increased risks of pre-eclampsia. To test this hypothesis, we have recruited 90 normal control and 30 preeclamptic women for the analysis of fetal PSG copy number variations (CNVs). The identification of novel PSG CNV-disease relationships will provide not only a better understanding of the pathology of pre-eclampsia but also a novel opportunity to identify patients with a high risk of developing early-onset pre-eclampsia, which has a five- to tenfold higher risk of life- threatening maternal complications and fetal demise as compared to late- onset pre-eclampsia patients.