Association Study of Estrogen Receptor Alpha Gene Polymorphisms with Spontaneous Abortion: Is This a Possible Reason for Unexplained Spontaneous Abortion?

Abstract

Estrogen plays a crucial role in fetal and placental development through estrogen receptors. Association of estrogen receptor alpha gene (ESR1) polymorphisms with spontaneous abortion has been shown in some studies. Our main goal was to study the potential association of spontaneous abortion with theESR1gene variations (PvuIIandXbaI) in fetal tissue. Totally, 161 samples were recruited including 80 samples of formalin-fixed paraffin-embedded fetal tissue from spontaneous abortion and 81 samples of normal term placental tissue. The restriction fragment length polymorphism (RFLP) method was performed for genotyping the rs2234693 (A/GXbaI) and rs9340799 (T/CPvuII) single nucleotide polymorphisms located in intron 1 ofESR1. The results have been confirmed by DNA sequencing analysis. The different genotypes distribution was detected in two study groups. Haplotype analysis indicated thatppxxis protective genotype against spontaneous abortion (P= 0.01). In conclusion, the potential role ofESR1genetic variation in spontaneous abortion might be valuable in high-risk subjects, and that needs to be confirmed with future studies.