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Hum. Reprod. Advance Access originally published online on January 5, 2006
Human Reproduction 2006 21(5):1154-1160; doi:10.1093/humrep/dei452
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Controversial role of inhibin {alpha}-subunit gene in the aetiology of premature ovarian failure

Victoria Sundblad1,5, Violeta A. Chiauzzi1, Luz Andreone2, Stella Campo2, Eduardo H. Charreau1,3 and Liliana Dain1,4

1 Instituto de Biología y Medicina Experimental (IBYME-CONICET), 2 Centro de Investigaciones Endocrinológicas (CEDIE), Hospital de Niños R. Gutiérrez, 3 Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires and 4 Centro Nacional de Genética Médica (ANLIS), Buenos Aires, Argentina

5To whom correspondence should be addressed at: Instituto de Biología y Medicina Experimental, Vuelta de Obligado 2490, C1428ADN, Buenos Aires, Argentina. E-mail: sundblad{at}dna.uba.ar

BACKGROUND: Premature ovarian failure (POF) is characterized by hypergonadotropic amenorrhoea before the age of 40. Inhibin {alpha}-subunit (INH{alpha}) gene is proposed as a candidate gene due to its role in negative feedback control of FSH. METHODS: Polymorphism –16C>T of INH{alpha} 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-{alpha}C and inhibin B values or mid-luteal phase Pro-{alpha}C 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. CONCLUSION: Our results indicate that –16C>T and 769G>A variants in INH{alpha} gene may not be associated to POF disease.

Key words: inhibin {alpha}-subunit gene/inhibin levels/premature ovarian failure


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