The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase γ gene is not associated with oligozoospermia
A. Brusco1,2, C. Michielotto1,2, V. Gatta3,4, C. Foresta5, G. Matullo1,6, M. Zeviani7, G. Ferrari7, E. Dragone2, G. Calabrese3,4 , M. Rossato5, L. Stuppia3,4 , and N. Migone1,2
1Department of Genetics, Biology and Biochemistry, University of Turin; 2Medical Genetics Unit, "San Giovanni Battista" Hospital; 6ISI Foundation, Institute for Scientific Interchange, Turin; 3Department of Biomedical Sciences, "G. d'Annunzio" University; 4Aging Research Center (CESI), "G. d'Annunzio" University Foundation, Chieti-Pescara; 5Department of Medical and Surgical Sciences, University of Padua, Padua; 7National Neurological Institute "Carlo Besta" - IRCCS, Milan, Italy

The POLG1 nuclear gene, encoding for the catalytic subunit of the mitochondrial polymerase γ, has been reported to play a role in male infertility. In fact, genotypes showing alleles different from the common ten repeat CAG allele have been detected in patients with oligozoospermia or in patients with normal spermiograms and unexplained infertility. However, these results have been debated by other studies. To verify these data, we analyzed 625 individuals in three groups of case-controls from three different Italian regions. In these series, the frequency of the different genotypes was not statistically different in oligozoospermic vs normal subjects. Even considering the pooled controls and patients (348 and 277, respectively), no significant difference was shown (p=0.11). Our findings, in agreement with other studies from Italy and France, suggest that, at least in these countries, the POLG1 CAG-repeat polymorphisms do not contribute to oligozoospermia. (J. Endocrinol. Invest. 29: 1-4, 2006) ©2006, Editrice Kurtis

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