Prospective study of MTHFR genetic polymorphisms as a possible etiology of male infertility

Li, S.-S.; Li, J.; Xiao, Zhijian; Ren, Aiguo; Jin, Lei

doi:10.4238/2014.march.24.26

Cited by 23 publications

(15 citation statements)

References 16 publications

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“…Moreover, Szczepańska et al (2011) opted to investigate women with endometriosis-associated infertility, and Settin et al (2011) studied those with unexplained pregnancy loss. Several studies carried out in different ethnicities regarding the C677T polymorphism in male infertility found a significant association (Aarabi et al, 2015;Kim et al, 2015;Li et al, 2014;Ni et al, 2015). Our study also found a positive association, but in regards to female infertility.…”

Section: Discussionsupporting

confidence: 76%

Role of C677T polymorphism in the MTHFR gene in Saudi females affected with infertility

Al-Mutawa¹

2019

Int. j. adv. appl. sci.

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The methylenetetrahydrofolate reductase (MTHFR) gene plays a major role in folate metabolism in infertile women. To date, limited studies have implicated the C677T polymorphism in MTHFR with female infertility, which is defined as the failure to accomplish clinical pregnancy with consistent unprotected sexual intercourse for 1 year; this disorder is influenced by various factors, including obesity and it affects in ~15% of couples during the reproductive period. However, limited molecular studies have been conducted pertaining to female infertility. The current study aimed to investigate the correlation between the C677T polymorphism in MTHFR and infertility in a Saudi population. In this study, 300 genomic DNA samples were extracted from 150 infertile and 150 fertile women, and genotyping was performed for the C677T polymorphism in MTHFR by using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The results revealed that the mutant T allele was significantly associated with infertility (odds ratio [OR] = 1.86; 95% CI = 1.15-2.99; p = 0.009). Additionally, the dominant and recessive modes of inheritance were positively associated with infertility, i.e., TT vs. CT+CC (OR = 2.98; 95% CI = 1.33-6.66; p = 0.005) and TT+CT vs. CC (OR = 1.89; 95% CI = 1.09-3.26; p = 0.02). The current results indicate that the T allele of the C677T polymorphism in MTHFR is a significant risk factor for infertility in women from a Saudi population.

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Section: Discussionsupporting

confidence: 76%

Role of C677T polymorphism in the MTHFR gene in Saudi females affected with infertility

Al-Mutawa¹

2019

Int. j. adv. appl. sci.

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“…An additional two publications contained duplicate data and were published by the same author; the one with the most subjects was included in the present analysis. Nine case-control studies considering 1,713 cases and 1,104 controls met the inclusion criteria[17–25](Fig 1). Of these, all 9 studies addressed the MTHFR C667T polymorphism; 3 studies addressed MTHFR A1298C polymorphism, and 3 studies addressed the MS A2756G polymorphism.…”

Section: Resultsmentioning

confidence: 99%

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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“…Some studies showed similar association between the MTHFR-Ala222Val with male infertility in different populations. Some of these studies include the Indian (Singh et al, 2005), Korean (Lee et al, 2006;Park et al, 2005), Italian (Paracchini et al, 2006), Iranian (Karimian and Hosseinzadeh Colagar, 2014;Safarinejad et al, 2011), Chinese (Li et al, 2014;Zhou-Cun et al, 2007), and French (Ravel et al, 2009) populations. These results are consistent with four recent meta-analysis that report an association between 222Val allele with male infertility; especially in Asian populations (Gupta et al, 2011;Wei et al, 2012;Weiner et al, 2014;Wu et al, 2012).…”

Section: Discussionmentioning

confidence: 97%

MTHFR-Ala222Val and male infertility: a study in Iranian men, an updated meta-analysis and an in silico-analysis

Nikzad

Karimian

Sareban

et al. 2015

Reproductive BioMedicine Online

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Methylenetetrahydrofolate reductase (MTHFR) functions as a main regulatory enzyme in folate metabolism. The association of MTHFR gene Ala222Val polymorphism with male infertility in an Iranian population was investigated by undertaking a meta-analysis and in-silico approach. A genetic association study included 497 men; 242 had unexplained infertility and 255 were healthy controls. Polymerase chain reaction restriction fragment length polymorphism was used for genotyping MTHFR-Ala222Val. OpenMeta[Analyst] software was used to conduct the analysis; 22 studies were identified by searching PubMed and the currently reported genetic association study. A novel in-silico approach was used to analyse the effects of Ala222Val substitution on the structure of mRNA and protein. Genetic association study revealed a significant association of MTHFR-222Val/Val genotype with oligozoospermia (OR 2.32; 95% CI, 1.12 to 4.78; P = 0.0451) and azoospermia (OR 2.59; 95% CI 1.09 to 6.17; P = 0.0314). Meta-analysis for allelic, dominant and codominant models showed a significant association between Ala222Val polymorphism and the risk of male infertility (P < 0.001). In silico-analysis showed MTHFR-Ala222Val affects enzyme structure and could also change the mRNA properties (P = 0.1641; P < 0.2 is significant). The meta-analysis suggested significant association of MTHFR-Ala222Val with risk of male infertility, especially in Asian populations.

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Prospective study of MTHFR genetic polymorphisms as a possible etiology of male infertility

Cited by 23 publications

References 16 publications

Role of C677T polymorphism in the MTHFR gene in Saudi females affected with infertility

Role of C677T polymorphism in the MTHFR gene in Saudi females affected with infertility

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

MTHFR-Ala222Val and male infertility: a study in Iranian men, an updated meta-analysis and an in silico-analysis

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