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Risk of premature ovarian failure is associated to the PvuII polymorphism at estrogen receptor gene ESR1

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

Estrogen plays an important role in the human reproductive system and it action is mediated mainly by two specific receptors: α (ERα) and β (ERβ). There were described polymorphic variants in ESR1 and ESR2 genes and studies showed controversial results regarding their association with premature ovarian failure. We aimed to determine the prevalence of ESR1 and ESR2 polymorphisms in Brazilian patients and controls. After associate the polymorphisms with premature ovarian failure (POF).

Methods

Genetic association study was performed with 70 women with POF and 73 normally menopaused controls. Detection of ESR1 (PvuII/and XbaI) and ESR2 (AluI and RsaI) gene polymorphisms were performed using TaqMan PCR. The single-nucleotide polymorphism (SNPs) and haplotype effects were analyzed by multivariate logistic regression and haplotype analysis and a p-value < 0.05 was considered significant.

Results

Individual SNP analysis revealed that PvuII polymorphism was statistically associated with POF (p = 0.034) under a recessive model. Regarding XbaI, AluI and RsaI SNPs, no statistical difference was observed between POF group and controls (p = 0.575, p = 0.258 and p = 0.483, respectively). Combined genotypes of ESR1 and ESR2 polymorphisms did not identify a risk haplotype associated with POF.

Conclusion

In Brazilian population evaluated results have demonstrated that the genetic variation in ESR1 gene (PvuII polymorphism) is associated to POF risk.

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Authors and Affiliations

  1. Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Division of Human Reproduction and Genetics, Avenida Príncipe de Gales, 821, Santo André, SP, Brazil, 09060-650

    Emerson Barchi Cordts, Aline Amaro Santos, Carla Peluso, Bianca Bianco, Caio Parente Barbosa & Denise Maria Christofolini

Authors
  1. Emerson Barchi Cordts
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  2. Aline Amaro Santos
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  3. Carla Peluso
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  4. Bianca Bianco
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  5. Caio Parente Barbosa
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  6. Denise Maria Christofolini
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Corresponding author

Correspondence to Denise Maria Christofolini.

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Capsule

Estrogen and estrogen receptor play an important role in the reproductive system. Impairment in function of the receptor isoforms has been associated with the development of premature ovarian failure.

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Cordts, E.B., Santos, A.A., Peluso, C. et al. Risk of premature ovarian failure is associated to the PvuII polymorphism at estrogen receptor gene ESR1 . J Assist Reprod Genet 29, 1421–1425 (2012). https://doi.org/10.1007/s10815-012-9884-x

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  • DOI: https://doi.org/10.1007/s10815-012-9884-x

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