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.
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.
  
  
  METHODS
  Prospective cohort study.
  
  
  METHODS
  University hospital.
  
  
  METHODS
  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).
  
  
  METHODS
  Eleven polymorphisms of genes with known associations with surrogate parameters of female ovarian function were analyzed.
  
  
  METHODS
  The prevalence of polymorphic alleles in the three distinct cohorts after adjustment for age.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  The ESR1-PvuII polymorphism emerges as a potential candidate for the early prediction of infertility due to premature ovarian aging.
authors: Department of Biomedicine, University Hospital, University of Basel, Switzerland.
authors: Nadira
authors: N
authors: M'Rabet
authors: Rebecca
authors: R
authors: Moffat
authors: Sabine
authors: S
authors: Helbling
authors: Andrea
authors: A
authors: Kaech
authors: Hong
authors: H
authors: Zhang
authors: Christian
authors: C
authors: de Geyter
mesh_terms: D000483:Alleles; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics; D047628:Estrogen Receptor alpha / Q000235:genetics*; D047629:Estrogen Receptor beta / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007247:Infertility, Female / Q000453:epidemiology* / Q000235:genetics*; D007438:Introns / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011237:Predictive Value of Tests; D011247:Pregnancy; D015995:Prevalence; D016649:Primary Ovarian Insufficiency / Q000453:epidemiology* / Q000235:genetics*; D011446:Prospective Studies; D011962:Receptors, FSH / Q000235:genetics; D012307:Risk Factors
chemical_list: D047628:Estrogen Receptor alpha; D047629:Estrogen Receptor beta; D011962:Receptors, FSH; D015252:Deoxyribonucleases, Type II Site-Specific