Hum. Reprod. Advance Access originally published online on April 10, 2009
Human Reproduction 2009 24(8):2023-2028; doi:10.1093/humrep/dep090
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A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure
1 Division of Genetics and Cell Biology, San Raffaele Scientific Institute, 4A2, Via Olgettina 58, 20132 Milano, Italy 2 Department of Gynecological Endocrinology and Reproductive Medicine, University of Heidelberg, Heidelberg, Germany 3 Institute of Molecular Genetics-CNR, Pavia, Italy 4 Department of Biology and Genetics for Medical Sciences, University of Milano, Milano, Italy 5 Department of Medical Sciences, University of Milan, Milano, Italy 6 Laboratory of Experimental Endocrinology, IRCCS Istituto Auxologico Italiano, Milano, Italy 7 Department of Genetic Diagnosis, Careggi University Hospital, University of Firenze, Firenze, Italy
8 Correspondence address. Tel +39-02-26434764; Fax: +39-02-26434767; E-mail: daniela.toniolo{at}hsr.it
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.
Key words: premature ovarian failure/inhibin variants/genetic risk factor/infertility
The full list of members of the Italian Network for the study of Ovarian Dysfunctions is given in Appendix. Submitted on January 26, 2009; resubmitted on March 12, 2009; accepted on March 18, 2009.
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