The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase γ gene is not associated with oligozoospermia

A. Brusco, C. Michielotto, V. Gatta, C. Foresta, G. Matullo, M. Zeviani, G. Ferrari, E. Dragone, G. Calabrese, M. Rossato, L. Stuppia, N. Migone

Research output: Contribution to journalArticlepeer-review

Abstract

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=O.l 1). 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.

Original languageEnglish
Pages (from-to)1-4
Number of pages4
JournalJournal of Endocrinological Investigation
Volume29
Issue number1
Publication statusPublished - Jan 2006

Keywords

  • DNA polymerase
  • POLG1
  • Primary infertility
  • Trinucleotide repeats

ASJC Scopus subject areas

  • Endocrinology

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