title: Intron 1 and exon 1 alpha estrogen receptor gene polymorphisms in women with endometriosis.
abstract: OBJECTIVE
  To evaluate the association of intron 1 and exon 1 polymorphisms in the estrogen receptor alpha gene (ER-alpha) with endometriosis in women.
  
  
  METHODS
  Association study.
  
  
  METHODS
  Endometriosis Unit, Federal University of São Paulo.
  
  
  METHODS
  The control group consisted of volunteers older than 45 years who had no evidence of endometriosis antecedents. Two groups with the disease were evaluated: the first group had stage I or II endometriosis and the second group stage III or IV.
  
  
  METHODS
  Polymerase chain reaction (PCR) followed by digestion with HaeIII and MspI endonucleases (RFLP) were applied to detect intron 1 and exon 1 polymorphisms, respectively, in a total of 125 controls and 105 affected women.
  
  
  METHODS
  Frequency and distribution of HaeIII and MspI polymorphisms in ER-alpha.
  
  
  RESULTS
  No significant differences in the frequency of polymorphisms either in intron 1 or exon 1 of ER-alpha were found when endometriosis patients were compared with control subjects. Furthermore, the frequency of ER-alpha polymorphisms within the two different groups of patients with disease was statistically similar. The odds ratio between presence of intron 1 single-nucleotide polymorphisms (SNP) and endometriosis was 0.904, and the odds ratio between exon 1 SNP and endometriosis was 0.976.
  
  
  CONCLUSIONS
  The evaluated polymorphisms were not associated with endometriosis.
authors.affiliation: Universidade Federal de São Paulo, São Paulo, Brazil. dr.heliosato@uol.com.br
authors.forename: Hélio
authors.initials: H
authors.lastname: Sato
authors.forename: Naiara C
authors.initials: NC
authors.lastname: Nogueira-de-Souza
authors.forename: Paulo
authors.initials: P
authors.lastname: D'Amora
authors.forename: Ismael D C G
authors.initials: ID
authors.lastname: Silva
authors.forename: Manoel J B C
authors.initials: MJ
authors.lastname: Girão
authors.forename: Eduardo
authors.initials: E
authors.lastname: Schor
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D004715:Endometriosis / Q000235:genetics*; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D018570:Risk Assessment
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha