The CC allele of the PvuII polymorphic variant in intron 1 of the α estrogen receptor gene is significantly more prevalent among infertile women at risk of premature ovarian aging

Hypothesizing that a combination of polymorphic variants of major endocrine constituents of the menstrual cycle determines ovarian reserve, only the ESR1-PvuII polymorphism was found to be a potential candidate for early prediction of premature ovarian aging in female infertility.


Nadira M'Rabet, M.Sc., Rebecca Moffat, M.D., Sabine Helbling, M.D., Andrea Kaech, M.D., Hong Zhang, Ph.D., Christian De Geyter, M.D.

Vol 98, Issue 4, Pages 965-972.e5



To study the distribution of a set of polymorphic alleles of genes encoding key regulators of the menstrual cycle in cohorts of women with different levels of fertility.


Prospective cohort study.


University Hospital.


Two hundred fertile women, who reported to have conceived within three months, 348 women with ongoing menstrual cycles suffering of infertility and 48 infertile women diagnosed with infertility and premature ovarian failure (POF).


Eleven polymorphisms of genes with known associations with surrogate parameters of female ovarian function were analyzed.

Main outcome measures:

The prevalence of polymorphic alleles in the three distinct cohorts after adjustment for age.


The distributions of the allelic variants were compared with the fertility status of the recruited women. Using age-adjusted logistic regression analysis and the Bonferroni correction for multiple corrections the CC-allele of the PvuII-polymorphic variant in intron 1 of the ESR1-gene was double as prevalent among women suffering of infertility (p<0.0001). None of the other polymorphisms were distributed differently among the three cohorts. Conclusion:

The ESR1-PvuII polymorphism emerges as a potential candidate for the early prediction of infertility due to premature ovarian aging.

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