title: Controversial role of inhibin alpha-subunit gene in the aetiology of premature ovarian failure.
abstract: BACKGROUND
  Premature ovarian failure (POF) is characterized by hypergonadotropic amenorrhoea before the age of 40. Inhibin alpha-subunit (INHalpha) gene is proposed as a candidate gene due to its role in negative feedback control of FSH.
  
  
  METHODS
  Polymorphism -16C>T of INHalpha gene was studied in 61 POF patients and 82 controls above 40 years old (C > 40). Substitution 769G>A was studied in 59 POF patients, 76 C > 40 and 73 controls below 40 years old (C < 40).
  
  
  RESULTS
  No significant difference in risk of POF development for -16T allele was found when comparing idiopathic POF (I-POF) with C > 40 (Odds ratio = 1.46; 95% confidence interval = 0.63-3.19). Implication of -16C>T polymorphism in serum inhibin levels was analysed in 46 controls, and no significant differences (P > 0.05) were found between CC and CT + TT genotype groups when comparing either mid-follicular phase Pro-alphaC and inhibin B values or mid-luteal phase Pro-alphaC and inhibin A values. Heterozygosity for substitution 769G>A was found in 1 of 59 POF woman, 2 of 76 C > 40 and 6 of 73 C < 40. Presence of this substitution in a relevant number of control subjects is herein described for the first time.
  
  
  CONCLUSIONS
  Our results indicate that -16C>T and 769G>A variants in INHalpha gene may not be associated to POF disease.
authors.affiliation: Instituto de Biología y Medicina Experimental (IBYME-CONICET), Buenos Aires, Argentina. sundblad@dna.uba.ar
authors.forename: Victoria
authors.initials: V
authors.lastname: Sundblad
authors.forename: Violeta A
authors.initials: VA
authors.lastname: Chiauzzi
authors.forename: Luz
authors.initials: L
authors.lastname: Andreone
authors.forename: Stella
authors.initials: S
authors.lastname: Campo
authors.forename: Eduardo H
authors.initials: EH
authors.lastname: Charreau
authors.forename: Liliana
authors.initials: L
authors.lastname: Dain
mesh_terms: D001118:Argentina; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D007265:Inhibins / Q000097:blood* / Q000235:genetics*; D011110:Polymorphism, Genetic; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D012306:Risk
chemical_list: C094377:inhibin-alpha subunit; D007265:Inhibins