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Hum. Reprod. Advance Access published online on January 13, 2005
Human Reproduction, doi:10.1093/humrep/deh666
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Human Reproduction © European Society of Human Reproduction and Embryology 2005; all rights reserved
Received July 13, 2004
Revised November 2, 2004
Accepted November 11, 2004

Article

Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study

I.E. Aknin-Seifer 1, R.L. Touraine 2, H. Lejeune 3, C. Jimenez 4, J. Chouteau 5, J.P. Siffroi 6, K. McElreavey 7, T. Bienvenu 8, C. Patrat 9, and R. Levy 10*

1 Laboratoire de Biologie de la Reproduction, CHU-Hôpital Nord, Saint Etienne, France, Service de Génétique Moléculaire, CHU-Hôpital Nord, Saint Etienne, France
2 Service de Génétique Moléculaire, CHU-Hôpital Nord, Saint Etienne, France
3 Département de Médecine de la Reproduction, Hôpital Edouard Herriot, Lyon, France
4 Laboratoire de Biologie de la Reproduction, Maternité de l'Hôpital du Bocage, Dijon, France
5 Clinilab, Saint Martin d'Hères, Hôpital Tenon, AP-HP, Paris, France
6 Service d'Histologie, Biologie de la Reproduction et Cytogénétique (EA1533), Hôpital Tenon, AP-HP, Paris, France
7 Reproduction, Fertility and Populations, Institut Pasteur, Paris, France, France
8 Laboratoire de Biochimie et Génétique Moléculaire Hôpital Cochin, AP-HP, Paris, France
9 Laboratoire de Biologie de la Reproduction, Hôpital Cochin, AP-HP, Paris, France
10 Laboratoire de Biologie de la Reproduction, CHU-Hôpital Nord, Saint Etienne, France

* To whom correspondence should be addressed.
R. Levy, E-mail: rachel.levy{at}chu-st-etienne.fr


  Abstract

BACKGROUND: Recent data emphasized the implication of polymerase {gamma} (POLG) CAG repeats in infertility, making it a very attractive gene for study. A comparison of POLG CAG repeats in infertile and fertile men showed a clear association between the absence of the usual 10-CAG allele and male infertility, excluding azoospermia. It has also been suggested that the POLG gene polymorphism should be considered as a possible contributing factor in unexplained couple infertility where semen parameters are normal. In this study, we investigated the POLG CAG repeats, in a well-defined population of patients with severe male factor infertility. METHODS: We conducted a large study of POLG CAG repeats in 433 infertile and 91 fertile, normozoospermic and healthy males. In all subjects, phenotypic data, including semen parameters, hormonal status and clinical profiles, were available. RESULTS: Thirteen ‘homozygous mutants’ (3%) were found among the 433 idiopathic infertile patients. The follow-up of the 13 ‘homozygous mutant’ resulted in pregnancy for more than half of the couples, through assisted reproductive techniques or even spontaneously. In addition, one ‘homozygous mutant’ was identified in 91 fertile men (1.1%) CONCLUSION: Under our conditions, our study does not confirm any relationship between the polymorphic CAG repeat in the POLG gene and male infertility.

Keywords: CAG repeats; male infertility; POLG.
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