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Mol. Hum. Reprod. Advance Access originally published online on March 3, 2008
Molecular Human Reproduction 2008 14(4):245-249; 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

G.H. Westerveld1,3, L. Kaaij-Visser1, M. Tanck2, F. van der Veen1 and S. Repping1

1Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, Meibergdreef 9, H4-205, 1105 AZ Amsterdam, The Netherlands 2Department of Clinical Epidemiology and Biostatistics, Academic Medical Center, Amsterdam, The Netherlands

3 Correspondence address. Tel: +31-20-5663458; Fax: +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, whereas 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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