Lack of association between genetic polymorphisms in three folate-related enzyme genes and male infertility in the Chinese population

Ni, Wuhua; Li, Haiyan; Wu, Aihua; Zhang, Peili; Yang, Haisong; Yang, Xu; Huang, Xuefeng; Jiang, Lei

doi:10.1007/s10815-014-0423-9

Cited by 25 publications

(11 citation statements)

References 44 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: 77%

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: 77%

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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“…Overall, 24 case-control articles (Bezold et al, 2001;Ebisch et al, 2003;Stuppia et al, 2003;Park et al, 2005;Lee et al, 2006;Paracchini et al, 2006;A et al, 2007;Dhillon et al, 2007;Sun et al, 2007;Ravel et al, 2009;Singh et al, 2005Singh et al, , 2010Gava et al, 2011;Liu, 2011;Qiu et al, 2011;Safarinejad et al, 2011;Eloualid et al, 2012;Vani et al, 2012;Karimian and Colagar, 2014;Li et al, 2014a,b;Mfady et al, 2014;Naqvi et al, 2014;Ni et al, 2015) were included in this meta-analysis. There were 21 studies of C677T with 4505 cases and 4024 controls, and 13 studies of A1298C with 2785 cases and 3094 controls.…”

Section: Characteristics Of the Included Studiesmentioning

confidence: 99%

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

Yang

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Published studies on the association between the C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene and male infertility risk are controversial. To obtain a more precise evaluation, we performed a meta-analysis based on published case-control studies. We conducted an electronic search of PubMed, EMBASE, the Cochrane Library, the Web of Science, and the China Knowledge Resource Integrated Database for papers on MTHFR gene C677T and A1298C polymorphisms and male infertility risk. Pooled odds ratios (ORs) with 95% confidence intervals (95%CIs) were used to assess the strength of association in homozygote, heterozygote, dominant, recessive, and additive models. Statistical heterogeneity, test of publication bias, and sensitivity analysis were carried out using the STATA software (Version 13.0). Overall, 21 studies of C677T (4505 cases and 4024 controls) and 13 studies of A1298C (2785 cases and 3094 controls) were included in this meta-analysis. For C677T, the homozygote comparison results were OR = 1.629, 95%CI (1.215-2.184), and the recessive model results were OR = 1.462 (1.155-1.850). For A1298C, the homozygote comparison results were OR = 1.289 (1.029-1.616), and the recessive model results were OR = 1.288 (1.034-1.604). In conclusion, the current meta-analysis showed that the MTHFR C677T polymorphism was associated with a significantly increased male infertility risk in the Asian and overall populations, but not in the Caucasian population, and there was a significant association between the A1298C polymorphism and male infertility risk in the Asian, Caucasian, and overall groups.

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“…Also Wu et al (2012) reported that stratified analysis indicate a significantly strong association between MTHFRAla222Val and male infertility only in Asians, but not in white people. Others, however, did not observe any significant association between 222Val with male infertility (Ebisch et al, 2003;Ni et al, 2015). One explanation for conflicting data between different studies could be geographic and ethnic 50b s_bs_query 51b s_bs_query 52b s_bs_query 53b s_bs_query 54b s_bs_query 55b s_bs_query 56b s_bs_query 57b s_bs_query 58b s_bs_query 59b s_bs_query 60b s_bs_query 61b s_bs_query 62b s_bs_query 63b s_bs_query 64b s_bs_query 65b s_bs_query 66b s_bs_query 67b s_bs_query 68b s_bs_query 69b s_bs_query 70b s_bs_query 71b s_bs_query 72b s_bs_query 73b s_bs_query 74b s_bs_query 75b s_bs_query 76b s_bs_query 77b s_bs_query variations (Toffoli and De Mattia, 2008).…”

Section: Discussionmentioning

confidence: 98%

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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Lack of association between genetic polymorphisms in three folate-related enzyme genes and male infertility in the Chinese population

Cited by 25 publications

References 44 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

Association between C677T and A1298C polymorphisms of the MTHFR gene and risk of male infertility: 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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