title: Estrogen receptor alpha gene polymorphisms are associated with idiopathic premature ovarian failure.
abstract: OBJECTIVE
  To assess the role of hormone receptor/binding protein variants in genetic predisposition to premature ovarian failure (POF).
  
  
  METHODS
  Case-control study.
  
  
  METHODS
  Academic.
  
  
  METHODS
  Fifty-five POF patients, 107 control women from the general population, and 27 control women who had proven fertility after age 37.
  
  
  METHODS
  None.
  
  
  METHODS
  Allele distributions in cases and controls were assessed for genetic association.
  
  
  RESULTS
  Allele distributions of polymorphisms at the androgen receptor (AR) gene, estrogen receptor beta (ESR2) gene, sex hormone-binding globulin (SHBG) gene, and FSH receptor (FSHR) gene did not differ between patients and controls. At a repeat in a promoter of the estrogen receptor alpha(ESR1) gene, POF patients had fewer (<18) short repeat alleles than did controls (P=.004 vs. combined controls). Genotypes consisting of two short alleles were found in 36.4% of control women but only 5.5% of POF patients (P<.0001 vs. combined controls). The ESR1 repeat may confer risk for POF in a simple dominant manner in which carriers of a long repeat have a relative risk of 9.7 (95% CI = 2.6 - 35.6).
  
  
  CONCLUSIONS
  Polymorphisms at the ESR1 gene are associated with POF in this patient population, while those in AR, ESR2, SHBG, and FSHR showed no association. Further studies are necessary to confirm these findings in larger patient samples and to identify the specific predisposing lesion.
authors: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors: Karla L
authors: KL
authors: Bretherick
authors: Courtney W
authors: CW
authors: Hanna
authors: Lauren M
authors: LM
authors: Currie
authors: Margo R
authors: MR
authors: Fluker
authors: Geoffrey L
authors: GL
authors: Hammond
authors: Wendy P
authors: WP
authors: Robinson
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D047628:Estrogen Receptor alpha / Q000235:genetics*; D047629:Estrogen Receptor beta / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D040582:Inheritance Patterns; D008875:Middle Aged; D011110:Polymorphism, Genetic; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D011944:Receptors, Androgen / Q000235:genetics; D011962:Receptors, FSH / Q000235:genetics; D012306:Risk; D012738:Sex Hormone-Binding Globulin / Q000235:genetics
chemical_list: D047628:Estrogen Receptor alpha; D047629:Estrogen Receptor beta; D011944:Receptors, Androgen; D011962:Receptors, FSH; D012738:Sex Hormone-Binding Globulin