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

被引：8

作者：

Liu, Shu-Yuan ^{[1
,2
]}

Zhang, Chang-Jun ^{[3
]}

Peng, Hai-Ying ^{[3
]}

Yao, Yu-Feng ^{[1
,2
]}

Shi, Lei ^{[1
,2
]}

Chen, Jin-Bao ^{[1
,2
]}

Lin, Ke-Qin ^{[1
,2
]}

Yu, Liang ^{[1
,2
]}

Shi, Li ^{[1
,2
]}

Huang, Xiao-Qin ^{[1
,2
]}

Sun, Hao ^{[1
,2
]}

Chu, Jia-You ^{[1
,2
]}

机构：

[1] Chinese Acad Med Sci, Inst Med Biol, Dept Med Genet, Kunming 650118, Peoples R China

[2] Peking Union Med Coll, Kunming 650118, Peoples R China

[3] Peoples Hosp Shiyan, Reprod Med Res Ctr, Shiyan 442000, Peoples R China

来源：

ASIAN JOURNAL OF ANDROLOGY | 2011年 / 13卷 / 02期

关键词：

case-control study; male infertility; meta-analysis; POLG-CAG-repeat; MITOCHONDRIAL-DNA POLYMERASE; POLG GENE; POLYMORPHISM; MUTATIONS; FERTILE;

D O I：

10.1038/aja.2010.91

中图分类号：

R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

摘要：

Several studies have reported a relationship between the length of the CAG-repeat in the polymerase c (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) 50.94; 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. Asian Journal of Andrology (2011) 13, 298-304; doi:10.1038/aja.2010.91; published online 22 November 2010

引用

页码：298 / 304

页数：7

共 27 条

[1] Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility?: A multi-centre French study [J].

Aknin-Seifer, IE ;

Touraine, RL ;

Lejeune, H ;

Jimenez, C ;

Chouteau, J ;

Siffroi, JP ;

McElreavey, K ;

Bienvenu, T ;

Patrat, C ;

Levy, R .

HUMAN REPRODUCTION, 2005, 20 (03) :736-740

[2] The expression of polymerase gamma and mitochondrial transcription factor A and the regulation of mitochondrial DNA content in mature human sperm [J].

Amaral, Alexandra ;

Ramalho-Santos, Joao ;

St John, Justin C. .

HUMAN REPRODUCTION, 2007, 22 (06) :1585-1596

[3]

[Anonymous], ZHONGHUA NAN KE XUE

[4] Male infertility and mitochondrial DNA [J].

Carra, E ;

Sangiorgi, D ;

Gattuccio, F ;

Rinaldi, AM .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2004, 322 (01) :333-339

[5] DNA polymerase gamma and mitochondrial disease: Understanding the consequence of POLG mutations [J].

Chan, Sherine S. L. ;

Copeland, William C. .

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2009, 1787 (05) :312-319

[6] Bias in meta-analysis detected by a simple, graphical test [J].

Egger, M ;

Smith, GD ;

Schneider, M ;

Minder, C .

BMJ-BRITISH MEDICAL JOURNAL, 1997, 315 (7109) :629-634

[7] Failure to Replicate a Genetic Association May Provide Important Clues About Genetic Architecture [J].

Greene, Casey S. ;

Penrod, Nadia M. ;

Williams, Scott M. ;

Moore, Jason H. .

PLOS ONE, 2009, 4 (06)

[8] Molecular analysis of polymerase gamma gene and mitochondrial polymorphism in fertile and subfertile men [J].

Harris, T. P. ;

Gomas, K. P. ;

Weir, F. ;

Holyoake, A. J. ;

McHugh, P. ;

Wu, M. ;

Sin, Y. ;

Sin, I. L. ;

Sin, F. Y. T. .

INTERNATIONAL JOURNAL OF ANDROLOGY, 2006, 29 (03) :421-433

[9] Measuring inconsistency in meta-analyses [J].

Higgins, JPT ;

Thompson, SG ;

Deeks, JJ ;

Altman, DG .

BMJ-BRITISH MEDICAL JOURNAL, 2003, 327 (7414) :557-560

[10] Quantifying heterogeneity in a meta-analysis [J].

Higgins, JPT ;

Thompson, SG .

STATISTICS IN MEDICINE, 2002, 21 (11) :1539-1558

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