Controversial role of inhibin α-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 α-subunit (INHα) gene is proposed as a candidate gene due to its role in negative feedback control of FSH. Methods: Polymorphism -16 C>T of INHα gene was studied in 61 POF p...

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Detalles Bibliográficos
Autores: Sundblad, V., Chiauzzi, V.A., Andreone, L., Campo, S., Charreau, E.H., Dain, L.
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2006
País:Argentina
Institución:Universidad Nacional de Buenos Aires. Facultad de Ciencias Exactas y Naturales
Repositorio:Biblioteca Digital (UBA-FCEN)
Idioma:inglés
OAI Identifier:paperaa:paper_02681161_v21_n5_p1154_Sundblad
Acceso en línea:http://hdl.handle.net/20.500.12110/paper_02681161_v21_n5_p1154_Sundblad
Access Level:acceso abierto
Palabra clave:Inhibin levels
Inhibin α-subunit gene
Premature ovarian failure
cytosine
follitropin
inhibin
inhibin A
inhibin B
thymine
adult
allele
alpha chain
amenorrhea
article
confidence interval
controlled study
DNA polymorphism
female
follicular phase
genotype
heterozygosity
human
major clinical study
negative feedback
nucleic acid base substitution
premature ovarian failure
risk assessment
statistical analysis
Descripción
Sumario:Background: Premature ovarian failure (POF) is characterized by hypergonadotropic amenorrhoea before the age of 40. Inhibin α-subunit (INHα) gene is proposed as a candidate gene due to its role in negative feedback control of FSH. Methods: Polymorphism -16 C>T of INHα 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-αC and inhibin B values or mid-luteal phase Pro-αC 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 su bstitution 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 INHα gene may not be associated to POF disease. © 2006 Oxford University Press.