Impact of polymorphism in DNA repair genes <i>OGG1</i>
 and <i>XRCC1</i>
 on seminal parameters and human male infertility

García-Rodríguez, A.; Casa, Moises de la; Serrano, M.; Gosálvez, J.; Barcelona, Rosa Roy

doi:10.1111/and.13115

Cited by 15 publications

(15 citation statements)

References 22 publications

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“…We found that Xrcc1 deficiency weakened the stemness of SSCs in vivo and in vitro. Our results provided new evidence that reduced activity of the BER members during spermatogenesis may be detrimental for fertility (39).…”

Section: Discussionmentioning

confidence: 60%

Deficiency of X‐ray repair cross‐complementing group 1 in primordial germ cells contributes to male infertility

et al. 2019

FASEB j.

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X‐ray repair cross‐complementing group 1 (Xrcc1), a key DNA repair gene, plays a vital role in maintaining genomic stability and is highly expressed in the early stages of spermatogenesis, but the exact functions remain elusive. Here we generated primordial germ cell–specific Xrcc1 knockout (cXrcc1−/−) mice to elucidate the effects of Xrcc1 on spermatogenesis. We demonstrated that Xrcc1 deficiency results in infertility in male mice due to impaired spermatogenesis. We found that cXrcc1−/− mice exhibited smaller size of testes as well as lower sperm concentration and motility than the wild‐type mice. Mechanistically, we demonstrated that Xrcc1 deficiency in primordial germ cells induced elevated levels of reactive oxygen species, mitochondria dysfunction, apoptosis, and loss of stemness of spermatogonial stem cells (SSCs) in testes. In Xrcc1‐deficienct SSCs, elevated oxidative stress and mitochondrial dysfunction could be partially reversed by treatment with the antioxidant N‐acetylcysteine (NAC), whereas NAC treatment did not restore the fertility or ameliorate the apoptosis caused by loss of Xrcc1. Overall, our findings provided new insights into understanding the crucial role of Xrcc1 during spermatogenesis.—Xu, C., Xu, J., Ji, G., Liu, Q., Shao, W., Chen, Y., Gu, J., Weng, Z., Zhang, X., Wang, Y., Gu, A. Deficiency of X‐ray repair cross‐complementing group 1 in primordial germ cells contributes to male infertility. FASEB J. 33, 7427–7436 (2019). http://www.fasebj.org

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Section: Discussionmentioning

confidence: 60%

Deficiency of X‐ray repair cross‐complementing group 1 in primordial germ cells contributes to male infertility

et al. 2019

FASEB j.

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“…In this meta-analysis, 5 relevant studies were screened. While two of them demonstrate a signifi cant association between XRCC1 polymorphisms and male infertility (17,19) , the other selected studies do not show any notable association (18,20,21). Hence, this meta-analysis was performed to evaluate the association of XRCC1 and male infertility in a comprehensive manner.…”

Section: Discussionmentioning

confidence: 95%

“…Year Country Sample Method CaseAA/AG/GG ControlAA/AG/GG HW-p HW-adj.p Garcia-Rodriguez et al (19) 2018 tribute with necessary data of the genotype frequencies of the XRCC1 Arg399Gln rs25487 variant in both cases and controls. The exclusion criteria were as follows: 1) conference abstract, case reports, reviews, and duplication data; 2) insuffi cient genotype information.…”

Section: Authorsmentioning

confidence: 99%

The polymorphism of XRCC1 Arg399Gln (rs25487) and male infertility risk: a meta-analysis of 1,407 cases and 974 control studies

Ibrahimi¹,

Musavi²,

Shojaee³

et al. 2019

BLL

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X-ray repair cross-complementing group 1 (XRCC1) is a scaffold protein and a key element in DNA base excision repair process. Although, the role of XRCC1 polymorphisms in male infertility has been studied broadly, it is still a matter of debate. Hence, in order to shed light on the problem, we performed a meta-analysis to evaluate the overall effect of XRCC1 polymorphisms in male infertility risk. Databases, Web of Science, PubMed, Scopus, and Google Scholar were searched until September 15, 2018. Afterwards, the genotypes' distribution, genotyping methods, and ethnicity groups were extracted, and overall analyses were conducted. A total number of fi ve researches on 1,407 subjects and 974 controls were found to meet our criteria in this meta-analysis. The XRCC1 Arg399Gln (rs25487) polymorphism was analyzed. This is the fi rst meta-analysis to investigate the association of XRCC1 polymorphisms (codon 399) and male infertility risk. Our results indicated that the XRCC1 Arg399Gln polymorphism was not associated with male infertility risk in the total studied populations (Tab. 2, Fig. 3, Ref. 26). Text in PDF www.elis.sk.

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“…[ 46 ] Numerous studies have demonstrated that the two SNPs are associated with male fertility; however, discordant results have been reported. [ 21 , 33 , 47 – 50 ] Currently, there are no published articles investigating the association between them. Therefore, we performed this meta-analysis to evaluate the association between the two SNPs and male infertility risk.…”

Section: Discussionmentioning

confidence: 99%

Association between polymorphisms in the XRCC1 gene and male infertility risk

Liu¹,

Lin

Yao

et al. 2020

Medicine

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Background: X-ray repair cross-complementing group 1 (XRCC1) single nucleotide polymorphisms (SNPs) might correlate with male infertility susceptibility. This association has been described; however, the findings remain inconsistent. Consequently, this meta-analysis was conducted to characterize the relationship between XRCC1 SNPs and male infertility susceptibility. Methods/main results: Studies were systematically searched in databases to evaluate the association between SNPs of XRCC1 and infertility in males. The effect measures chosen were the 95% confidence intervals (95% CIs) and odds ratios (ORs). A total of 7 studies, including 6 case-controlled studies on XRCC1 Arg399Gln and 3 case-controlled studies on XRCC1 Arg194Trp, were included. Ultimately, the results of this analysis revealed that XRCC1 Arg399Gln SNPs were significantly associated with infertility in males in homozygote comparisons (GG vs GA+AA: OR = 0.614, 95% CI: 0.40–0.937, P = .024). This meta-analysis did not demonstrate a relationship between XRCC1 Arg194Trp and male infertility risk. Conclusions: Our study indicated that XRCC1 Arg399Gln polymorphism was associated with a significantly decreased male infertility risk, but not XRCC1 Arg194Trp.

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Impact of polymorphism in DNA repair genes OGG1 and XRCC1 on seminal parameters and human male infertility

Cited by 15 publications

References 22 publications

Deficiency of X‐ray repair cross‐complementing group 1 in primordial germ cells contributes to male infertility

Deficiency of X‐ray repair cross‐complementing group 1 in primordial germ cells contributes to male infertility

The polymorphism of XRCC1 Arg399Gln (rs25487) and male infertility risk: a meta-analysis of 1,407 cases and 974 control studies

Association between polymorphisms in the XRCC1 gene and male infertility risk

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