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Association of ESR and FOXP3 gene polymorphisms with outcome of ovarian stimulation in infertile females undergoing IVF


Estrogen receptor (ER) gene plays a major role in folliculogenesis, maturation of oocytes and fertilization of embryo. FOXP3 gene is a crucial regulatory factor for the development and function of Treg cells; it takes part as a central role in the induction and maintenance of fetal-maternal immunologic tolerance. Therefore, the present study was aimed to investigate the association of ESR and FOXP3 gene polymorphisms in infertile women who are undergoing in vitro fertilization (IVF) with poor ovarian reserve upon controlled ovarian hyperstimulation (COH) induced by follicle-stimulating hormone (FSH).

Materials and methods

Genomic DNA was extracted from EDTA-peripheral blood by using high salting-out method, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was done followed by DNA sequencing to confirm the results for ESR1 gene on intron 1, PvuII T/C (rs2234693) and XbaI A/G (rs9340799); ESR2: RsaI G/A (rs1256049) on exon 5; and FOXP3 gene: HaeIII T/C (rs2294021) single-nucleotide polymorphisms (SNPs). Genotyping was carried out in infertile female (n=25) undergoing in-vitro fertilization (IVF) with poor ovarian reserve and healthy fertile controls (n=25).


Statistical analysis of ESR 1 (rs2234693) gene polymorphism showed a significant association (p<0.05) between cases and controls. Whereas, ESR 1 (rs9340799), ESR2 (rs1256049) and FOXP3 (rs2294021) genotypes showed no significant association (P>0.05) in cases and controls.


As polymorphism rs2234693 (PvuII) showed a significant association in dominant model (Odds ratio: 3.19 (95%CI: 1.00-10.17); P: 0.04), genetic variability of the Estrogen receptor gene may exert an indirect effect on the pregnancy outcome of IVF patients by affecting the development of the follicles, oocytes and embryos. Still, further studies are necessary to confirm our findings with larger sample size that might improve our understanding of ESR1 gene polymorphisms and its importance for advancing infertility diagnoses, treatment and genetic counselling.

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Correspondence to Arun Kiran Patnam.

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This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.

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Patnam, A.K., Vinu, R., Vijayalakshmi, J. et al. Association of ESR and FOXP3 gene polymorphisms with outcome of ovarian stimulation in infertile females undergoing IVF. Mol Cytogenet 7 (Suppl 1), P61 (2014).

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  • ESR
  • FOXP3
  • infertility
  • IVF
  • poor ovarian response