title: Investigating the association between inhibin alpha gene promoter polymorphisms and premature ovarian failure.
abstract: OBJECTIVE
  To determine whether variants in the promoter region of the inhibin alpha gene (INHA) are associated with premature ovarian failure (POF).
  
  
  METHODS
  Mutational analysis of the INHA gene promoter in women with POF.
  
  
  METHODS
  Academic institution.
  
  
  METHODS
  Patients with POF (n = 194) and controls (n = 162) from New Zealand and Slovenia.
  
  
  METHODS
  Peripheral blood samples were screened for known polymorphisms in the INHA promoter (c.-16C-->T, c.-124A-->G, and an imperfect TG repeat at approximately -300 base pairs). Genotyping was performed by restriction fragment length polymorphism, forced restriction fragment length polymorphism, and nondenaturing high-performance liquid chromatography analysis.
  
  
  METHODS
  Genotypic status of INHA promoter polymorphisms.
  
  
  RESULTS
  Significant differences in INHA promoter allele frequencies were observed between POF patient populations and controls. Significant reductions in allele frequency were observed for the -16T allele (New Zealand POF) and -124G allele (total POF) and for INHA promoter haplotypes C (New Zealand POF) and D (Slovenian POF).
  
  
  CONCLUSIONS
  We conclude that INHA promoter variants are associated with the development of POF.
authors.affiliation: Discipline of Oncology, University of Auckland, Auckland, New Zealand. k.woad@auckland.ac.nz
authors.forename: Kathryn J
authors.initials: KJ
authors.lastname: Woad
authors.forename: Shona M
authors.initials: SM
authors.lastname: Pearson
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Harris
authors.forename: Ksenija
authors.initials: K
authors.lastname: Gersak
authors.forename: Andrew N
authors.initials: AN
authors.lastname: Shelling
mesh_terms: D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D007265:Inhibins / Q000235:genetics*; D007621:Karyotyping; D009520:New Zealand; D012150:Polymorphism, Restriction Fragment Length; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D011401:Promoter Regions, Genetic; D012016:Reference Values; D017524:Slovenia
chemical_list: D017931:DNA Primers; C094377:inhibin-alpha subunit; D007265:Inhibins; D004247:DNA