Mutation analysis of the inhibin alpha gene in a cohort of Italian women affected by ovarian failure
Articolo
Data di Pubblicazione:
2002
Citazione:
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. Dalpra, E. Ginelli. - In: HUMAN REPRODUCTION. - ISSN 0268-1161. - 17:7(2002 Jul), pp. 1741-1745.
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 (INHalpha) 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 INHalpha 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 INHalpha 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 INHalpha gene as a candidate for
ovarian failure
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Inhibin; Mutation; Ovarian failure; Premature ovarian failure; Sterility
Elenco autori:
A. Marozzi, C. Porta, W. Vegetti, P.G. Crosignani, M.G. Tibiletti, L. Dalpra, E. Ginelli
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