1. A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure
- Author
-
Corre, T., Schuettler, J., Bione, S., Marozzi, A., Persani, L., Rossetti, R., Torricelli, F., Giotti, I., Vogt, P., Toniolo, D., Italian Network for the study of Ovarian Dysfunctions, Biondi, M, Bruni, V, Brigante, C, Cisternino, M, Colombo, I, Crosignani, Pg, D'Avanzo, Mg, Dalprà, L, Danesino, C, Di Prospero, F, Donti, E, Falorni, A, Fusi, F, Lanzi, R, Larizza, D, Locatelli, N, Madaschi, S, Maghnie, M, Marzotti, S, Migone, N, Nappi, R, Palli, D, Patricelli, Mg, Pisani, C, Prontera, P, Petraglia, F, Renieri, Alessandra, Ricca, I, Ripamonti, A, Russo, G, Russo, S, Tibiletti, Mg, Tonacchera, M, Vegetti, W, Villa, N, Vineis, P, and Zuffardi, O.
- Subjects
Adult ,Adolescent ,endocrine system diseases ,Genome-wide association study ,Primary Ovarian Insufficiency ,premature ovarian failure ,Biology ,Polymorphism, Single Nucleotide ,inhibin variants ,Cohort Studies ,Gene Frequency ,Polymorphism (computer science) ,medicine ,Humans ,Inhibins ,Allele ,Risk factor ,Child ,Allele frequency ,Gene ,Genetics ,INHA ,Rehabilitation ,genetic risk factor ,Obstetrics and Gynecology ,Middle Aged ,medicine.disease ,female genital diseases and pregnancy complications ,Premature ovarian failure ,infertility ,Reproductive Medicine ,Female ,Genome-Wide Association Study - Abstract
Background Three variants of the human INHA gene have been reported to be associated with premature ovarian failure (POF) in case-control studies involving a small number of patients and controls. Since inhibin has a fundamental role in the control of ovarian function, it is important to establish the relevance of the reported variants for disease risk. Methods Three independent POF cohorts, recruited in Northern and Central Italy and in Germany consisting of a total of 611 patients and 1084 matched controls, were genotyped for the three variants: -16C > T, -124A > G and 769G > A. Results No significant difference was detected between allelic frequencies of the INHA promoter variants between POF patients and controls. The rare allele in the coding variant appeared to be more frequent among the control populations. Conclusions The association between the INHA promoter variants and POF could not be replicated, and our results suggest that this discrepancy is likely to be due to the small sample size of previous studies. The rare allele of the coding variant seems to exert a protective effect against loss of ovarian function, which should be confirmed in additional large and ethnically diverse cohorts.
- Published
- 2009