CAG Repeat Polymorphism of the Mitochondrial DNA Polymerase Gamma Gene in Macedonian Infertile and Fertile Men

Plaseski, Toso; Noveski, Predrag; Dimitrovski, Cedomir; Ефремов, Г. Д.; Plaseska‐Karanfilska, Dijana

doi:10.2478/v10034-008-0005-1

Cited by 3 publications

(4 citation statements)

References 11 publications

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“…Some studies combined three (azoospermia, oligozoospermia and asthenozoospermia) or more subgroups of idiopathic male infertility to examine the distribution of CAG-repeat variants of the POLG gene. 12,13,15,[17][18][19] On the contrary, some studies analyzed only one subgroup or excluded some subgroups, such as Rani et al, 16 who studied only the association between the CAG-repeat variant and POLG-CAG-repeat variant and male infertility SY Liu et aloligoasthenozoospermia; Rovio et al, 9 who excluded azoospermic and severely oligozoospermic men; and this study, which only included asthenozoospermic and oligoasthenozoospermic men. All studies excluded patients with genetic causes of infertility (karyotype mutations, Kallman syndrome, Y-chromosome microdeletions and cystic fibrosis mutations) from the analysis; however, not all known genetic causes of male infertility were reported to be excluded in all studies.…”

Section: Polg-cag-repeat Variant and Male Infertility Sy Liu Et Al 302mentioning

confidence: 86%

“…The results from this study and other casecontrol studies 9,[11][12][13][15][16][17][18][19] were combined for meta-analysis. The departure from HWE for the control group in each study was assessed using a Pearson x 2 test for goodness of fit in the HWE program (http:// ihg2.helmholtz-muenchen.de/cgi-bin/hw/hwa1.pl).…”

Section: Statistical Analysis and Meta-analysismentioning

confidence: 99%

“…10 More and more evidence has indicated that the length of the CAG-repeat may influence the function of spermatozoa, and several studies have confirmed that an alteration in the length of the CAG-repeat is associated with male infertility; 9,11,12 however, some studies have failed to establish such an association. [13][14][15][16][17][18][19] Because there are different distributions of the CAG-repeat length among healthy individuals from different ethnic groups, 10,14,16 a determination of the distribution of CAG-repeat length is necessary before an association study between male infertility and CAG-repeat variants in the POLG gene can be carried out.…”

Section: Introductionmentioning

confidence: 99%

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

Liu¹,

Zhang²,

Haiying³

et al. 2010

Asian J Androl

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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: OR51.34; 95% CI: 0.66-2.72), heterozygote comparison (10/not 10 versus 10/10: OR51.04; 95% CI: 0.78-1.38), dominant model comparison (not 10/not 10110/ not 10 versus 10/10: OR51.08; 95% CI: 0.79-1.47) and recessive genetic comparison (not 10/not 10 versus 10/not 10110/10: OR51.31; 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.

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Section: Polg-cag-repeat Variant and Male Infertility Sy Liu Et Al 302mentioning

confidence: 86%

Section: Statistical Analysis and Meta-analysismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

Liu¹,

Zhang²,

Haiying³

et al. 2010

Asian J Androl

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“…We have also studied the possible association of several different polymorphisms with male infertility. There was no association between the POLG polymorphism and infertility in Macedonian men [17]. We found a significantly higher percentage of long CAG repeats in patients with mild oligozoospermia indicating the possible association of CAG repeat numbers in exon 1 of the AR gene and mild oligozoospermia [18].…”

Section: Introductionmentioning

confidence: 84%

Genetic Causes of Male Infertility

Plaseska‐Karanfilska¹,

Noveski²,

Plaseski³

et al. 2012

Balkan Journal of Medical Genetics

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CAG-repeat polymorphisms in the polymerase γ gene and male infertility: a meta-analysis

et al. 2016

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CAG-repeat in the polymerase γ (POLG) gene encoding polymerase γ for mitochondria is important to spermatogenesis. Compared with a few researchers who raised alteration of CAG-repeat-affected male reproductive ability, others did not find the association between CAG-repeat polymorphisms and male infertility. Therefore, a comprehensive meta-analysis is necessary to determine the association; 13 case-control studies were screened out using keywords search. From these studies, characteristics were extracted for conducting meta-analysis. Odds ratio (OR) and 95% confidence interval (CI) were used to describe the results; the results indicated that CAG-repeat allele was not a risk factor to male infertility (pooled OR = 1.03, 95% CI: 0.79-1.34, P = 0.828). Four different genetic comparisons also demonstrated a negative result: heterozygote comparison (not 10/10 versus 10/10. Pooled OR = 0.99, 95% CI: 0.77-1.27, P = 0.948), homozygote comparison (not 10/not 10 versus 10/10. Pooled OR = 1.08, 95% CI: 0.56-2.06, P = 0.816), the recessive genetic comparison (not 10/not 10 versus not 10/10 + 10/10. Pooled OR = 1.07, 95% CI: 0.58-1.95, P = 0.829) and the dominant genetic comparison (not 10/not 10 + not 10/10 versus 10/10. Pooled OR = 0.97, 95% CI: 0.72-1.29, P = 0.804); based on current researches, this meta-analysis demonstrated no apparent association between POLG-CAG-repeat and male infertility. Similarly, CAG-repeat was not a sensitive site to male infertility.

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CAG Repeat Polymorphism of the Mitochondrial DNA Polymerase Gamma Gene in Macedonian Infertile and Fertile Men

Cited by 3 publications

References 11 publications

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

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

Genetic Causes of Male Infertility

CAG-repeat polymorphisms in the polymerase γ gene and male infertility: a meta-analysis

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