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  • Title: 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.
    Author: M'Rabet N, Moffat R, Helbling S, Kaech A, Zhang H, de Geyter C.
    Journal: Fertil Steril; 2012 Oct; 98(4):965-72.e1-5. PubMed ID: 22749220.
    Abstract:
    OBJECTIVE: 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. DESIGN: Prospective cohort study. SETTING: University hospital. PATIENT(S): Two hundred fertile women, who reported to have conceived within 3 months, 348 women with ongoing menstrual cycles suffering of infertility, and 48 infertile women diagnosed with infertility and premature ovarian failure (POF). INTERVENTION(S): Eleven polymorphisms of genes with known associations with surrogate parameters of female ovarian function were analyzed. MAIN OUTCOME MEASURE(S): The prevalence of polymorphic alleles in the three distinct cohorts after adjustment for age. RESULT(S): 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 twice as prevalent among women suffering from infertility. None of the other polymorphisms were distributed differently among the three cohorts. CONCLUSION(S): The ESR1-PvuII polymorphism emerges as a potential candidate for the early prediction of infertility due to premature ovarian aging.
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