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Molecular Human Reproduction, Vol. 9, No. 10, 587-592, October 2003
© 2003 European Society of Human Reproduction and Embryology

Article

Chromosomal region 11p15 is associated with male factor subfertility*

Submitted on June 9, 2003; accepted on June 26, 2003

Judith Gianotten1,7, Fulco van der Veen1, Mariëlle Alders2, Nico J. Leschot2, Michael W.T. Tanck3, Jolande A. Land4, Jan A.M. Kremer5, Lies H. Hoefsloot6, Marcel M. Mannens2, M. Paola Lombardi1,2 and Mariëtte J.V. Hoffer1,2

1 Center for Reproductive Medicine, Department of Obstetrics and Gynaecology, 2 Department of Clinical Genetics and 3 Department of Clinical Epidemiology and Biostatistics, Academic Medical Center Amsterdam, 4 Department of Obstetrics and Gynaecology, Academic Hospital Maastricht, 5 Department of Obstetrics and Gynaecology and 6 Department of Human Genetics, University Hospital Nijmegen, The Netherlands

7 To whom correspondence should be addressed at: Center for Reproductive Medicine, Department of Obstetrics and Gynaecology, Academic Medical Center, Meibergdreef 9, H4-205, 1105 AZ Amsterdam, The Netherlands. e-mail: J.Gianotten{at}amc.uva.nl
*Partly presented orally at the 19th annual meeting of the European Society of Human Reproduction and Embryology in July 2003, Madrid.

The molecular aetiology of male factor subfertility, due to impaired spermatogenesis, is still unknown in the majority of cases. It is thought to be a complex disorder in which multiple genes are implicated. Cryptorchidism and reduced fecundity are symptoms in male Beckwith–Wiedemann patients and the ZNF214 and ZNF215 genes, localized on chromosomal region 11p15, are associated with this syndrome. We hypothesized that the ZNF214 and ZNF215 genes, which are predominantly expressed in the testis, could be involved in male factor subfertility in patients with idiopathic impaired spermatogenesis or in patients with impaired spermatogenesis due to cryptorchidism. Male partners of subfertile couples with idiopathic azoo- or severe oligozoospermia, male partners with azoo- or severe oligozoospermia and cryptorchidism in their medical history and men with normozoospermia were screened for nine single nucleotide polymorphisms in the ZNF214 and ZNF215 genes. An association study was performed based on allele and estimated haplotype frequencies. Statistically significant differences in allele frequencies and in estimated haplotype frequencies were found in both patient groups compared with controls. Thereafter, both genes were screened for mutations in all patients by PCR and single strand conformation polymorphism analysis. Aberrant patterns were confirmed by DNA sequencing. Mutation analysis in ZNF214 and ZNF215 revealed five new variants in the patients that were not present in the controls. At least three of these mutations were inherited from the mother. Our results suggest that chromosomal region 11p15 is associated with male factor subfertility due to impaired spermatogenesis with and without cryptorchidism.

Key words: genetics/impaired spermatogenesis/male subfertility/ZNF214/ZNF215


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