Westerveld G H, Kaaij-Visser L, Tanck M, van der Veen F, Repping S
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, Meibergdreef 9, H4-205, 1105 AZ Amsterdam, The Netherlands.
Mol Hum Reprod. 2008 Apr;14(4):245-9. doi: 10.1093/molehr/gan012. Epub 2008 Mar 3.
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.
多项病例对照研究调查了POLG基因中CAG重复长度变异对男性生育力和精液质量的影响。一些研究描述了纯合not10 CAG重复基因型与男性生育力低下和/或精液质量下降之间的关联，而其他研究则未发现这种关联。我们研究的目的是调查not10/not10变异是否与生精障碍有关。通过直接测序方法，我们确定了700名连续纳入的、具有不同程度生精功能的男性队列中POLG基因的CAG重复长度，以研究其对精液质量的影响。我们队列中not10/not10变异的频率为4.7%。不同POLG基因型组之间的精液质量没有差异。不同种族亚组之间三种CAG重复基因型的频率存在显著差异。总之，not10/not10 POLG变异与临床上显著的精液质量下降无关，但其频率取决于种族背景。
