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

TitleThe polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia.
Publication TypeJournal Article
Year of Publication2006
AuthorsBrusco, A, Michielotto, C, Gatta, V, Foresta, C, Matullo, G, Zeviani, M, Ferrari, G, Dragone, E, Calabrese, G, Rossato, M, Stuppia, L, Migone, N
JournalJ Endocrinol Invest
Volume29
Issue1
Pagination1-4
Date Published2006 Jan
ISSN0391-4097
KeywordsAdult, Case-Control Studies, Cohort Studies, DNA Polymerase gamma, DNA-Directed DNA Polymerase, Humans, Infertility, Male, Italy, Male, Middle Aged, Mitochondria, Oligospermia, Peptides, Polymorphism, Genetic, Trinucleotide Repeats
Abstract

The POLG1 nuclear gene, encoding for the catalytic subunit of the mitochondrial polymerase gamma, 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.

DOI10.1007/bf03349169
Alternate JournalJ. Endocrinol. Invest.
Citation Key10.1007/bf03349169
PubMed ID16553026