title: Evaluation of PvuII and XbaI polymorphisms in the estrogen receptor alpha gene (ESR1) in relation to menstrual cycle timing and reproductive parameters in post-menopausal women.
abstract: OBJECTIVE
  To evaluate the association of -397T>C and -351A>G single nucleotide polymorphisms (SNPs) - also called PvuII and XbaI, respectively - located on estrogen receptor alpha (ERS1) gene with age at menarche, menopause onset, fertility and miscarriage in a population of post-menopausal women.
  
  
  METHODS
  Cross-sectional study with 273 healthy, high miscegenated, post-menopausal women (mean age of 63.1±9.7 years old). Subjects were genotyped for PvuII and XbaI SNPs by PCR-RFLP and confirmed by automatic sequencing. Reproduction informations (age at menarche, age at menopause, number of pregnancies, fertility rate and miscarriages) were obtained by retrospective study using a questionnaire.
  
  
  RESULTS
  Age at menarche, menopause onset, number of pregnancies, total fertility rate, and parity did not seem to be influenced by any of the studied genotypes (chi-square, p>0.05). However, women carrying the xx genotype showed a 44% higher chance of miscarriage, whereas this value did not trespass 16% for any other genotype analyzed. It has been also observed a higher occurrence of miscarriage in association with combined xxpp genotype of ERS1 gene (chi-square, p<0.01).
  
  
  CONCLUSIONS
  The present data indicate that the studied SNPs on ERS1 gene do not influence the menstrual cycle timing and parity but there is a strong relationship between the xx ERS1 SNP genotype and the incidence of miscarriage in the post-menopausal population analyzed.
authors.affiliation: Programa de Pós-Graduação em Biotecnologia/RENORBIO, Universidade Federal do Espírito Santo, Vitória, Espírito Santo, Brazil.
authors.forename: Ian Victor
authors.initials: IV
authors.lastname: Silva
authors.forename: Lucas Cunha Dias
authors.initials: LC
authors.lastname: Rezende
authors.forename: Silvania Pereira
authors.initials: SP
authors.lastname: Lanes
authors.forename: Letícia Soncini
authors.initials: LS
authors.lastname: Souza
authors.forename: Klesia Pirola
authors.initials: KP
authors.lastname: Madeira
authors.forename: Murilo Fanchiotti
authors.initials: MF
authors.lastname: Cerri
authors.forename: Marcela Ferreira
authors.initials: MF
authors.lastname: Paes
authors.forename: Renata Dalmaschio
authors.initials: RD
authors.lastname: Daltoé
authors.forename: Antônio
authors.initials: A
authors.lastname: Chambô-Filho
authors.forename: Marco César Cunegundes
authors.initials: MC
authors.lastname: Guimarães
authors.forename: Jones Bernardes
authors.initials: JB
authors.lastname: Graceli
authors.forename: Leticia Batista Azevedo
authors.initials: LB
authors.lastname: Rangel
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D000367:Age Factors; D000368:Aged; D016009:Chi-Square Distribution; D003430:Cross-Sectional Studies; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D005298:Fertility / Q000235:genetics; D005838:Genotype; D006801:Humans; D008572:Menarche / Q000235:genetics; D008593:Menopause / Q000235:genetics; D008875:Middle Aged; D010298:Parity / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D017698:Postmenopause; D011247:Pregnancy
chemical_list: D047628:Estrogen Receptor alpha