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Mol. Hum. Reprod. Advance Access published online on March 3, 2008
Molecular Human Reproduction, doi:10.1093/molehr/gan012
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© The Author 2008. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

CAG repeat length variation in the polymerase gamma (POLG) gene: effect on semen quality

GH Westerveld1,, L Kaaij-Visser1, M. Tanck2, F van der Veen1 and S Repping1

1 Center for Reproductive Medicine, Department of Obstetrics and Gynaecology 2Department of Clinical Epidemiology and Biostatistics, Academic Medical Center, Amsterdam, the Netherlands

Corresponding author: Henrike Westerveld, MD Center for Reproductive Medicine Dept. of Obstetrics and Gynecology Academic Medical Center Meibergdreef 9, H4-205 1105 AZ Amsterdam The Netherlands Telephone: +31-20-5663458Telefax: +31-20-6963489 E-mail: g.h.westerveld{at}amc.uva.nl

Several case-control studies have investigated the effect of CAG-repeat length variation in the POLG gene on male fertility and semen quality. Some described an association between the homozygous not10 CAG-repeat genotype and male subfertility and/or reduced semen quality, while others did not. The aim of our study was to investigate whether the not10/not10 variant is associated with spermatogenic failure.

By direct sequencing methods, we determined the CAG-repeat length of POLG in a cohort of 700 consecutive included men with variable degrees of spermatogenesis to investigate its effect on semen quality.

The frequency of the not10/not10 variant in our cohort was 4.7%. There were no differences in semen quality between groups with various POLG genotypes. There was a significant difference in frequency of the three CAG-repeat genotypes between ethnic subgroups.

In conclusion, the not10/not10 POLG variant is not associated with clinically significant decreases in semen quality, but its frequency is dependent on ethnic background.

Key Words: CAG repeat/male subfertility/POLG/polymerase gamma/semen quality

Submitted on January 10, 2008; resubmitted on February 12, 2008; accepted on February 19, 2008.


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