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Hum. Reprod. Advance Access originally published online on January 13, 2005
Human Reproduction 2005 20(3):736-740; doi:10.1093/humrep/deh666
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Human Reproduction Vol. 20 No. 3 © The Author 2005; all rights reserved

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

I.E. Aknin-Seifer1,2, R.L. Touraine2, H. Lejeune3, C. Jimenez4, J. Chouteau5, J.P. Siffroi6, K. McElreavey9, T. Bienvenu7, C. Patrat8 and R. Levy1,10,10

1 Laboratoire de Biologie de la Reproduction, 2 Service de Génétique Moléculaire, CHU-Hôpital Nord, Saint Etienne, 3 Département de Médecine de la Reproduction, Hôpital Edouard Herriot, 10 INSERM U418/INRA UMR 1245, Communications Cellulaires et Differenciation, Hopital Debrousse, Lyon, 4 Laboratoire de Biologie de la Reproduction, Maternité de l'Hôpital du Bocage, Dijon, 5 Clinilab, Saint Martin d'Hères, 6 Service d'Histologie, Biologie de la Reproduction et Cytogénétique (EA1533), Hôpital Tenon, AP-HP, Paris, 7 Laboratoire de Biochimie et Génétique Moléculaire Hôpital Cochin, AP-HP, Paris, 8 Laboratoire de Biologie de la Reproduction, Hôpital Cochin, AP-HP, Paris, 9 Reproduction, Fertility and Populations, Institut Pasteur, Paris, France

10 To whom correspondence should be addressed. Email: rachel.levy{at}chu-st-etienne.fr

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.

Key words: CAG repeats/male infertility/POLG


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