Controversial role of inhibin alpha-subunit gene in the aetiology of premature ovarian failure.
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.
Sundblad
Victoria
V
Instituto de Biología y Medicina Experimental (IBYME-CONICET), Buenos Aires, Argentina. sundblad@dna.uba.ar
Chiauzzi
Violeta A
VA
Andreone
Luz
L
Campo
Stella
S
Charreau
Eduardo H
EH
Dain
Liliana
L
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
C094377:inhibin-alpha subunit; D007265:Inhibins