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.