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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 the  ESR1  gene variations ( PvuII  and  XbaI ) 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/G  XbaI ) and rs9340799 (T/C  PvuII ) single nucleotide polymorphisms located in intron 1 of  ESR1 . The results have been confirmed by DNA sequencing analysis. The different genotypes distribution was detected in two study groups. Haplotype analysis indicated that  ppxx  is protective genotype against spontaneous abortion ( P  = 0.01). In conclusion, the potential role of  ESR1  genetic variation in spontaneous abortion might be valuable in high-risk subjects, and that needs to be confirmed with future studies.

biomed research international

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