Association of estrogen receptor 1 rs9340799 polymorphism with implantation failure in Iranian infertile women

Purpose: Estrogen as a crucial hormone during pregnancy acts by two types of receptors. Estrogen receptor alpha, expressed by estrogen receptor 1 (ESR1) gene, is more abundant and exists in all human reproductive systems. Association of ESR1 gene polymorphism has been shown in some reproductive fields such as spontaneous abortion, endometriosis-related infertility and in vitro fertilization failure. The present study has investigated the association between single nucleotide polymorphism rs9320799 in intron 1 of ESR1 gene with implantation failure in Iranian infertile women who were submitted for conventional in vitro fertilization (IVF) procedure and had no blastocyst implantation. Materials and Methods: Hundred two infertile women with at least one IVF failure were enrolled in the study as the case group and 112 healthy women as the control group. The restriction fragment length of polymorphism method was performed for genotyping the single nucleotide polymorphism rs9340799 (A/G XbaI) located in intron 1 of ESR1 gene. The result was confirmed by DNA sequencing analysis. Results: The genotype distribution of AA in case and control groups was 40 (39.2%) and 55 (49.1%), respectively. However, genotype distribution of AG was 41 (40.2%) and 47 (41.9%). Ultimately genotype distribution of GG was 21 (20.6%) and 10 (9%). There was a statistically significant difference between case and control groups in the genotype distribution of XbaI polymorphism (P = .04). Conclusion: There was an association between single nucleotide polymorphism ESR1 rs9340799 and implantation failure in Iranian infertile women who underwent IVF procedure.