The SPO11-C631T gene polymorphism and male infertility risk: a meta-analysis

Ren, Zheng-Ju; Ren, Pengwei; Yang, Bo; Liao, Jian; Liu, Shengzhuo; Fang, Kun; Ren, Shuang; Liu, Liang-Ren; Dong, Qiang

doi:10.1080/0886022x.2016.1274661

Cited by 14 publications

(4 citation statements)

References 18 publications

(12 reference statements)

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“…[4,5] In addition, genetic factors, such as chromosomal aberrations, gene mutations, and polymorphisms, can also be associated with male infertility. [6–8] Several studies suggest the CYP1A1 gene as a candidate gene for male infertility. [9,10]…”

Section: Introductionmentioning

confidence: 99%

Association between CYP1A1 rs4646903 T > C genetic variations and male infertility risk

Cao

Ren

Lu³

et al. 2019

Medicine

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Background: Number of studies have been performed to investigate the relationship between the CYP1A1 rs4646903 polymorphism and male infertility risk, but the sample size was small and the results were conflicting. A meta-analysis was performed to assess these associations. Methods: A systematic search was conducted to identify all relevant studies from Medline, Web of science, Embase, China biology medical literature database (CBM), China National Knowledge Infrastructure (CNKI), WanFang and Weipu (VIP) databases up to June 30, 2018. The odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the strength of associations. All of the statistical analyses were conducted using Revman 5.3 and Stata 14.0. Results: Ten studies involved 3028 cases and 3258 controls. Overall, significant association was observed between the CYP1A1 rs4646903 polymorphism and male infertility (C vs T: OR = 1.42, 95%CI = 1.14–1.76; CC vs TT: OR = 2.13, 95%CI = 1.36–3.34; CC vs CT+TT: OR = 1.96, 95%CI = 1.30–2.95; CC+CT vs TT: OR = 1.51, 95%CI = 1.16–1.97). In subgroup analysis by ethnic group, a statistically significant association was observed in Asians (C vs T: OR = 1.59, 95%CI = 1.22–2.08), but not in Non-Asians (C vs T: OR = 1.01, 95%CI = 0.79–1.30). Additionally, none of the individual studies significantly affected the association between CYP1A1 rs4646903 polymorphism and male infertility, according to sensitivity analysis. Conclusion: Our meta-analysis supports that the CYP1A1 rs4646903 polymorphism might contribute to individual susceptibility to male infertility in Asians.

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Section: Introductionmentioning

confidence: 99%

Association between CYP1A1 rs4646903 T > C genetic variations and male infertility risk

Cao

Ren

Lu³

et al. 2019

Medicine

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“…have found that variants in some DSB formation-related genes can lead to human infertility. Initially, an SNP (C631T) in SPO11 was reported to be associated with male infertility characterized by oligospermia (Ren et al 2017). Subsequently, a loss-of-function TOP6BL variant was shown to cause infertility in both males and females by disrupting the key catalytic role of SPO11 (Jiao et al 2020).…”

Section: Discussionmentioning

confidence: 99%

Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility

Pan,

Wang,

et al. 2024

Hum. Genet.

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Preimplantation embryonic arrest is an important pathogenesis of female infertility, but little is known about the genetic factors behind this phenotype. MEI4 is an essential protein for DNA double-strand break formation during meiosis, and Mei4 knock-out female mice are viable but sterile, indicating that MEI4 plays a crucial role in reproduction. To date, MEI4 has not been found to be associated with any human reproductive diseases. Here, we identi ed six compound heterozygous and homozygous MEI4 variants-namely, c.293C > T (p.Ser98Leu), c.401C > G (p.Pro134Arg), c.391C > G (p.Pro131Ala), c.914A > T (p.Tyr305Phe), c.908C > G (p.Ala303Gly), and c.899A > T (p.Gln300Leu)-in four independent families that were responsible for female infertility mainly characterized by preimplantation embryonic arrest. In vitro, we found that these variants reduced the interaction between MEI4 and DNA. In vivo, we generated a knock-in mouse model and demonstrated that female mice were infertile and were characterized by developmental defects during oogenesis. Our ndings reveal the important roles of MEI4 in human reproduction and provide a new diagnostic marker for genetic counseling of clinical infertility patients.

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“…After being generated, all meiotic DSBs remain linked with SPO11; however, the MRN complex is also essential for the repair of meiotic SPO11-linked DSBs in male mice [ 69 ]. SPO11 knockout activates abnormal meiotic arrest in zygotene spermatocytes in rats, causing male infertility [ 70 ]. Spo11P306T/− mice are sterile; also, they make fewer meiotic DSBs than Spo11+/− animals, which suggests that the Spo11P306T allele is possibly delayed in making sufficient DSBs at the right time.…”

Section: Reasons and Consequences Of Genome Instabilitymentioning

confidence: 99%

Idiopathic Infertility as a Feature of Genome Instability

Puzuka

Alksere

Gailīte

et al. 2021

Life

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Genome instability may play a role in severe cases of male infertility, with disrupted spermatogenesis being just one manifestation of decreased general health and increased morbidity. Here, we review the data on the association of male infertility with genetic, epigenetic, and environmental alterations, the causes and consequences, and the methods for assessment of genome instability. Male infertility research has provided evidence that spermatogenic defects are often not limited to testicular dysfunction. An increased incidence of urogenital disorders and several types of cancer, as well as overall reduced health (manifested by decreased life expectancy and increased morbidity) have been reported in infertile men. The pathophysiological link between decreased life expectancy and male infertility supports the notion of male infertility being a systemic rather than an isolated condition. It is driven by the accumulation of DNA strand breaks and premature cellular senescence. We have presented extensive data supporting the notion that genome instability can lead to severe male infertility termed “idiopathic oligo-astheno-teratozoospermia.” We have detailed that genome instability in men with oligo-astheno-teratozoospermia (OAT) might depend on several genetic and epigenetic factors such as chromosomal heterogeneity, aneuploidy, micronucleation, dynamic mutations, RT, PIWI/piRNA regulatory pathway, pathogenic allelic variants in repair system genes, DNA methylation, environmental aspects, and lifestyle factors.

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The SPO11-C631T gene polymorphism and male infertility risk: a meta-analysis

Cited by 14 publications

References 18 publications

Association between CYP1A1 rs4646903 T > C genetic variations and male infertility risk

Association between CYP1A1 rs4646903 T > C genetic variations and male infertility risk

Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility

Idiopathic Infertility as a Feature of Genome Instability

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