Association between C677T and A1298C polymorphisms of the MTHFR gene and risk of male infertility: a meta-analysis

Yang, Yan; Yy, Luo; Wu, Shan; Yd, Tang; Xd, Rao; Xiong, Li; Ming, Tan; Mz, Deng; H, Liu

doi:10.4238/gmr.15027631

Cited by 15 publications

(23 citation statements)

References 31 publications

(32 reference statements)

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“…There is accumulating evidence that there is a connection between thrombophilia factor MTHFR and infertility of both men and women (1,3,(10)(11)(12)(16)(17)(18). In females, the C677T mutation in the MTHFR gene greatly increases the risk of miscarriage (1,3,11,(16)(17)(18).…”

Section: Discussionmentioning

confidence: 99%

“…While male infertility accounts for about half of infertility cases that characterize 15-20% of couples (9), to our knowledge there is no report of testing of the two major coagulation factor mutations in infertile men. Another common thrombophiliacausing mutation, C677T, in the methylene-tetrahydrofolate reductase (MTHFR) gene has been associated with both female and male infertility (10)(11)(12).…”

Section: Abstract Background: Thrombophilia-related Mutations Such mentioning

confidence: 99%

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Mutations of Two Major Coagulation Factors Are Not Associated with Male Infertility

Yapijakis

Pachis²,

Avgoustidis

et al. 2016

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Section: Discussionmentioning

confidence: 99%

Section: Abstract Background: Thrombophilia-related Mutations Such mentioning

confidence: 99%

Mutations of Two Major Coagulation Factors Are Not Associated with Male Infertility

Yapijakis

Pachis²,

Avgoustidis

et al. 2016

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“…As a result, several meta-analyses addressing these associations have been performed. Three recent meta-analyses consistently showed that the MTHFR C677T polymorphism was associated with a significantly increased male infertility risk in the Asian and overall populations but not the Caucasian population[11–13]. Two recent meta-analyses both showed that the MS A2756G polymorphism may be a genetic risk factor for idiopathic male infertility[13, 14].…”

Section: Introductionmentioning

confidence: 99%

“…Two recent meta-analyses both showed that the MS A2756G polymorphism may be a genetic risk factor for idiopathic male infertility[13, 14]. Moreover, two recent meta-analyses were performed to examine the association between MTHFR A1298C and the risk of male infertility, the results were inconsistent[11, 13]. In the Chinese population, several studies have examined the associations between folate-related enzyme gene polymorphisms and the risk of male infertility; however, the results are inconclusive.…”

Section: Introductionmentioning

confidence: 99%

“…Because the majority of relevant studies in the Chinese population were published in local Chinese journals, most international readers cannot access and/or read them. In addition, the recent meta-analyses do not include all relevant studies of Chinese populations[11–15]. Therefore, to evaluate the relationships between each of the three SNPs and male infertility risk within the Chinese population, we performed a meta-analysis including the most recent data in the literature.…”

Section: Introductionmentioning

confidence: 99%

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MTHFR C677T, A1298C and MS A2756G Gene Polymorphisms and Male Infertility Risk in a Chinese Population: A Meta-Analysis

Ren

Yang

et al. 2017

PLoS ONE

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BackgroundMethylenetetrahydrofolate reductase gene (MTHFR C677T and A1298C) and methionine synthase gene (MS A2756G) polymorphisms have shown an association with male infertility risk in several ethnic populations. Although several studies have evaluated these associations in Chinese populations, their small sample sizes and inconsistent outcomes have prevented strong conclusions. Therefore, the present meta-analysis was performed with published studies to evaluate the associations of the three single nucleotide polymorphisms (SNPs) and male infertility in a Chinese population.MethodsWe conducted a search of PubMed, Embase, Web of Science, Chinese National Knowledge Infrastructure (CNKI), China biology medical literature (CBM), VIP, and Chinese literature (Wan Fang) databases up to May 31, 2016. Odds ratios (ORs) and 95% confidence intervals (95%CIs) were used to assess the strength of associations with a random-effect model or a fixed-effect model based on the heterogeneity analysis results. Sensitivity analysis was used to confirm the reliability and stability of the meta-analysis.ResultsA total of nine studies, including 1,713 cases and 1,104 controls, were included in the meta-analysis. The pooled results indicated that the MTHFR C667T polymorphism was significantly associated with increased risk of male infertility in the Chinese population in the allele model (T vs. C: OR = 1.47, 95%CI = 1.32–1.63), the dominant model (TT + CT vs. CC: OR = 1.51, 95%CI = 1.30–1.77), the additive model (TT vs. CC: OR = 2.08, 95%CI = 1.68–2.58) and the recessive model (TT vs. CT+CC: OR = 1.58, 95%CI = 1.31–1.90), whereas the MTHFR A1298C and MS A2756G polymorphisms were not risk factors. There was no significant heterogeneity in any genotype contrasts among the studies. The sensitivity analysis indicated that the results of this meta-analysis were relatively stable.ConclusionThis study suggests that the MTHFR C667T polymorphism may contribute to the genetic susceptibility to male infertility in the Chinese population, whereas MTHFR A1298C and MS A2756G polymorphisms may be unrelated to male infertility. Studies with larger sample sizes and representative population-based cases and well-matched controls are needed to validate our results.

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Standardization and application of ARMS TaqMan real‐time PCR for screening of folate metabolism genes in Han Chinese

Deng,

Liu,

et al. 2024

Electrophoresis

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Folate has antioxidant properties, and low concentration in seminal plasma may be associated with increased DNA damage in sperm. Mutations of the methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes, including MTHFR C677T (rs1801133), MTHFR A1298C (rs1801131), and MTRR A66G (rs1801394), can lead to decreased activity of the encoded folate metabolic enzymes, thereby affecting male reproduction. The current SNP detection methods commonly used in clinical practice have some shortcomings, such as long time‐consuming, complex detection steps, or high cost. The purpose of this study was to establish a simple, time‐saving, sensitive, accurate, and easy to clinical popularization method for folate metabolism gene detection. We combined ARMS‐PCR with TaqMan fluorescent probe to establish an ARMS TaqMan real‐time PCR detection method. According to the variation of rs1801131, rs1801133, and rs1801394, two specific primers (one wild type and one mutant) were designed. Mismatched nucleotides were introduced at the penultimate or third position to improve the specificity of the primer. Specific TaqMan probe was introduced to detect PCR products to improve the sensitivity of the method. The results showed that the sensitivity of ARMS TaqMan real‐time PCR in SNP genotyping was 1 ng, and the accuracy was 100%. A total of 249 clinical samples were detected by the established method, and the correlation between three SNPs and semen quality was analyzed. We found that individuals carrying the AG + GG genotype of rs1801394 had a lower risk of abnormal semen quality. In conclusion, we developed a highly sensitive, accurate, rapid, and easy to be popularized method for detecting SNPs of rs1801394, rs1801131, and rs1801133. ARMS TaqMan real‐time PCR is a reliable SNP genotyping method in folate metabolism genes.

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Association between C677T and A1298C polymorphisms of the MTHFR gene and risk of male infertility: a meta-analysis

Cited by 15 publications

References 31 publications

Mutations of Two Major Coagulation Factors Are Not Associated with Male Infertility

Mutations of Two Major Coagulation Factors Are Not Associated with Male Infertility

MTHFR C677T, A1298C and MS A2756G Gene Polymorphisms and Male Infertility Risk in a Chinese Population: A Meta-Analysis

Standardization and application of ARMS TaqMan real‐time PCR for screening of folate metabolism genes in Han Chinese

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