ArticleJournal of assisted reproduction and genetics2013
Mitochondrial DNA polymerase gamma gene polymorphism is not associated with male infertility.
Article in Journal of assisted reproduction and genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- Endocrine Dysfunction in Primary Mitochondrial Diseases.Endocrine reviews · 2025Review
- Evaluation of Risk Factors and a Gene Panel as a Tool for Unexplained Infertility Diagnosis by Next-Generation Sequencing.Medicina (Kaunas, Lithuania) · 2025Review
- Mitochondrial disease and endocrine dysfunction.Nature reviews. Endocrinology · 2017Review
- Epigenetics and male reproduction: the consequences of paternal lifestyle on fertility, embryo development, and children lifetime health.Clinical epigenetics · 2015Review
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCAG repeat length of human miotochondrial DNA Polymerase gamma (POLG) gene is polymorphic with a major allele at 10 repeats and considered as the common allele whereas the mutant alleles (not 10/not 10 CAG repeats) were found to be associated with oligospermia / oligoasthenospermia in male infertility. To explore whether CAG trinucleotide repeat expansion in exon 1 of POLG gene is associated with spermatogenic failure.
methodsOne hundred twenty four infertile men (sperm count <20 million/ml) and 60 normozoospermic (sperm count >20 million/ml) control Indian men of Tamil Nadu, were enrolled. DNA was extracted from 10 ml of peripheral blood and from semen using standard procedures. CAG repeat expansion was analyzed by polymerase chain reaction. Amplified products were quantified by 2 % agarose gel electrophoresis and subjected to genescan analysis to ascertain the size of POLG-CAG alleles.
resultsThis analysis interestingly revealed that the common allele 10 (10-CAG repeats) was widespread in infertile and normozoospermic control men with a frequency of 79 % and 71.7 % respectively. No statistical significance was found in POLG genotypic frequency distribution between infertile men and normospermic men.
conclusionThe present study confirmed no association between the POLG gene polymorphism and male infertility. Thus, if associated with infertility, the POLG gene polymorphism should be only considered as a minor possible contributing factor in infertile male patients with no impact on obtaining a pregnancy.
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