Mutation analysis of the inhibin alpha gene in a cohort of Italian women affected by ovarian failure

A. Marozzi, C. Porta, W. Vegetti, P. G. Crosignani, M. G. Tibiletti, L. Dalprà, E. Ginelli

Research output: Contribution to journalArticle

Abstract

Background: Premature ovarian failure (POF) is a secondary hypergonadotrophic amenorrhoea affecting 1-3% of females, whose aetiology is almost unknown. However, inhibin alpha gene (INHα) has recently been indicated as candidate in POF pathogenesis. Methods: We analysed patients affected by POF (n = 157) for the missense mutation (769G→A transition) in the exon 2 of the INHα gene. The same analysis was carried out on early menopause (EM) (n = 36) and primary amenorrhoea (n = 12) patients. Results: The incidence of the mutation was significantly more frequent within both POF (7/157, 4.5%) (Fisher's exact test, P = 0.030) and primary amenorrhoea (3/12, 25%) (Fisher's exact test, P <0.001) patients, compared with the control population of women (0/100), who experienced physiological menopause. No mutation was found in EM patients. Furthermore, the likelihood of finding the mutation was statistically significant in familial (5/65; 7.7%) (Fisher's exact test, P <0.01) but not in sporadic (2/92; 2.2%) (Fisher's exact test, P = not significant) POF, compared with the control group. The analysis of pedigrees showing the inheritance of the 769G→A mutation and POF strengthens the concept of the disease heterogeneity, since the POF phenotype was not always associated with the mutation. Moreover, a higher prevalence of the C allele of a single nucleotide polymorphism (129C→T), located in the 5′-UTR of the INHα gene, was observed in POF patients (80.3%) than in the control group (66.7%) (Fisher's exact test, P = 0.014). Conclusion: These data strengthen the concept of the INHα gene as a candidate for ovarian failure.

Original languageEnglish
Pages (from-to)1741-1745
Number of pages5
JournalHuman Reproduction
Volume17
Issue number7
Publication statusPublished - 2002

Keywords

  • Inhibin
  • Mutation
  • Ovarian failure
  • Premature ovarian failure
  • Sterility

ASJC Scopus subject areas

  • Physiology
  • Developmental Biology
  • Obstetrics and Gynaecology
  • Reproductive Medicine

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    Marozzi, A., Porta, C., Vegetti, W., Crosignani, P. G., Tibiletti, M. G., Dalprà, L., & Ginelli, E. (2002). Mutation analysis of the inhibin alpha gene in a cohort of Italian women affected by ovarian failure. Human Reproduction, 17(7), 1741-1745.