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Association between estrogen receptora gene (ESR1) PvuII (T/C) and XbaI (A/G) polymorphisms and premature ovarian failure risk: evidence from a meta-analysis

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

Abstract

Background and aims

Genetic factors are important in the pathogenesis of Premature ovarian failure (POF). Notably, estrogen receptor-a (ESR1) has been suggested as a possible candidate gene for POF; however, published studies of ESR1 gene polymorphisms have been hampered by small sample sizes and inconclusive or ambiguous results. The aim of this meta analysis is to investigate the associations between two novel common ESR1 polymorphisms (intron 1 polymorphisms PvuII-rs2234693: T.C and XbaI-rs9340799: A.G) and POF.

Methods

A comprehensive search was conducted to identify all studies on the association of ESR1 gene polymorphisms with POF up to August 2014. Pooled odds ratio (OR) and corresponding 95 % confidence interval (CI) were calculated using fixed-or random-effects model in the meta-analysis.

Results

Three studies covering 1396 subjects were identified. Pooled data showed significant association between ESR1 gene PvuII polymorphism and risk of POF: [allele model: Cvs. T, OR = 0.735, 95%CI: 0.624 ~ 0.865, p = 0.001; co-dominant models: CCvs.TT, OR = 0.540, 95%CI: 0.382 ~ 0.764, p = 0.001, CTvs.TT, OR = 0.735, 95%CI: 0.555 ~ 0.972, p = 0.031; dominant model: CT + CCvs.TT, OR = 0.618, 95%CI: 0.396 ~ 0.966, p = 0.035; recessive model: CCvs.TT + CT, OR = 0.659, 95%CI: 0.502 ~ 0.864, p = 0.003]. Subgroup analyses showed a significant association in all models in Asian population, but no significant association in any model in European population. For the XbaI polymorphism, overall, no significant association was observed under any genetic models. However, under dominant model, ESR1 gene XbaI polymorphism is significantly association with risk of POF in Asian population.

Conclusion

The present meta-analysis suggests that ESR1gene PvuII polymorphism is significantly associated with an increased risk of POF. And ESR1gene XbaI polymorphism is not association with risk of POF overall. However, under dominant model, ESR1gene XbaI polymorphism is significantly association with risk of POF in Asian population. Further large and well-designed studies are needed to confirm the association.

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Acknowledgments

This work was not supported by any funds.

Conflict of Interest

The authors declare that they have no competing interests with respect to the authorship and/or publication of this article.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, Guangxi ZhuangAutonomousRegion, China

    Meirong He, Xing Huang & Hui Tang

  2. Department of Otorhinolaryngology, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous Region, China

    Jingcheng Shu

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  1. Meirong He
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  4. Hui Tang
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Correspondence to Xing Huang or Hui Tang.

Additional information

Meirong He and Jingcheng Shu contributed equally to this study and should be considered as co-first authors.

Capsule

In a case-control study comprising 478 women with POF and 918 women without the disease. For the PvuII polymorphism, we were able to demonstrate that there were significant association observed under all genetic models, overall and in Asian population. However,for the XbaI polymorphism,overall, no significant association was observed under any genetic models. But ESR1 gene XbaI polymorphism is significantly association with risk of POF under dominant model in Asian population.

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He, M., Shu, J., Huang, X. et al. Association between estrogen receptora gene (ESR1) PvuII (T/C) and XbaI (A/G) polymorphisms and premature ovarian failure risk: evidence from a meta-analysis. J Assist Reprod Genet 32, 297–304 (2015). https://doi.org/10.1007/s10815-014-0393-y

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  • DOI: https://doi.org/10.1007/s10815-014-0393-y

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