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Abstract

Volume 13, Issue 2 (March 2011) 13, 298–304; 10.1038/aja.2010.91

CAG-repeat variant in the polymerase γ gene and male infertility in the Chinese population: a meta-analysis

Shu-Yuan Liu1, Chang-Jun Zhang2, Hai-Ying Peng2, Yu-Feng Yao1, Lei Shi1, Jin-Bao Chen1, Ke-Qin Lin1, Liang Yu1, Li Shi1, Xiao-Qin Huang1, Hao Sun1 and Jia-You Chu1

1 Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming 650118, China
2 Reproductive of Medical Research Centre of People's Hospital of Shiyan 442000, Shiyan, China

Correspondence: Dr JY Chu, (Chujy08@gmail.com)

Received 6 May 2010; Revised 12 June 2010; Accepted 13 July 2010; Published online 22 November 2010

Abstract

Several studies have reported a relationship between the length of the CAG-repeat in the polymerase γ (POLG) gene and male infertility. However, other studies have not reproduced this result. In our study, the POLG-CAG-repeat length was analyzed in 535 healthy individuals from six Chinese Han populations living in different provinces. The frequencies of 10-CAG alleles and genotypes were high (97.38 and 94.13%, respectively), with no significant difference among the six Chinese Han populations. Furthermore, we determined the distribution of the POLG-CAG-repeat in 150 infertile men and 126 fertile men. Our study suggested that the distributions of POLG-CAG-repeat alleles and genotypes were not significantly different between infertile (95.67 and 92.67%, respectively) and fertile men (97.22 and 94.44%, respectively). In a subsequent meta-analysis, combining our data with data from previous studies, a comparison of the CAG-repeat alleles in fertile versus infertile men showed no obvious risk for male infertility associated with any particular allele (pooled odds ratio (OR)=0.94; 95% confidence interval (CI): 0.60–1.48). The significance level was not attained with any of the following genetic models: homozygote comparison (not 10/not 10 versus 10/10: OR=1.34; 95% CI: 0.66–2.72), heterozygote comparison (10/not 10 versus 10/10: OR=1.04; 95% CI: 0.78–1.38), dominant model comparison (not 10/not 10+10/not 10 versus 10/10: OR=1.08; 95% CI: 0.79–1.47) and recessive genetic comparison (not 10/not 10 versus 10/not 10+10/10: OR=1.31; 95% CI: 0.68–2.55). In conclusion, there is no significant difference of the frequencies of POLG-CAG-repeat variants among six Chinese Han populations, and this polymorphism may not be associated with Chinese male infertility. On the basis of a meta-analysis, there is no obvious association between CAG-repeat variants of the POLG gene and male infertility.

Keywords: case–control study; male infertility; meta-analysis; POLG-CAG-repeat

Keywords: case–control study; male infertility; meta-analysis; POLG-CAG-repeat

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Asian Journal of Andrology CN 31-1795/R ISSN 1008-682X  Copyright © 2023  Shanghai Materia Medica, Chinese Academy of Sciences.  All rights reserved.