MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE The results indicated that MTHFR C677T, A1298C, and MTRR A66G polymorphisms were significantly associated with male infertility in Asian populations (Dominant model: MTHFR CC + CT vs TT: OR = 0.60, 95% CI (0.53, 0.67), P <.00001; MTHFR AA + AC vs CC: OR = 0.62, 95% CI (0.49, 0.79), P = .0001; MTRR AA + AG vs GG: OR = 0.60, 95% CI (0.45, 0.81), P = .001. 30813130 2019
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE MTHFR polymorphisms as risk for male infertility in Pakistan and its comparison with socioeconomic status in the world. 30468411 2019
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE Human MTHFR-G1793A transition may be a protective mutation against male infertility: a genetic association study and in silico analysis. 28270024 2018
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 PosttranslationalModification phenotype BEFREE The aim of this study was to find out whether or not methylenetetrahydrofolate reductase (MTHFR) gene promoter hypermethylation in the spermatozoa of men who were offered assisted reproduction is associated with idiopathic male infertility. 27596009 2017
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE 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. 28081209 2017
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE 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. 27173242 2016
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE In conclusion, this meta-analysis is in favor that the MTHFR C677T polymorphism is capable of causing male infertility susceptibility, especially in Asians and the subgroup of azoospermia. 26584688 2016
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE Based on our results, we suggest that C677T transition in MTHFR may increase the risk of male infertility, and detection of the C677T polymorphism biomarker may be helpful in the screening of idiopathic male infertility. 25412139 2016
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE Our findings suggest the MTHFR c.1298A > C polymorphism is associated with an increased risk of male infertility, i.e., NOA. 26196053 2015
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE Overall, MTHFR 677C>T polymorphism showed significant associations with male infertility risk in both fixed effects (CT+TT vs. CC: OR = 1.34, 95% CI: 1.23-1.46) and random effects models (CT+TT vs. CC: OR = 1.39, 95% CI: 1.19-1.62). 25793386 2015
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE On the other hand, the MTHFR A1298C mutation was not related to male infertility. 26549413 2015
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) and male infertility. 25578539 2015
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE Numerous literature suggests that the MTHFR polymorphism may be genetic risk factors for male infertility. 24456105 2015
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE We examined the association between the methionine synthase reductase (MTRR A66G), methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), and methionine synthase (MS A2756G) genotypes and non-obstructive male infertility in a Chinese population. 25966116 2015
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE 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. 26380869 2015
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE Our results indicated that the MTHFR 3'-UTR rs55763075 polymorphism might modify the susceptibility to male infertility with idiopathic azoospermia. 26505368 2015
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE The results showed an association between MTHFR 677TT genotype and male infertility (P<0.05). 24334125 2014
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE Prospective study of MTHFR genetic polymorphisms as a possible etiology of male infertility. 24737513 2014
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE The MTHFR rs1801133 polymorphism is not associated with male infertility in the Spanish population. 23955684 2013
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE Significant impact of the MTHFR polymorphisms and haplotypes on male infertility risk. 23874907 2013
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE The influence of MTHFR variants on male infertility is not completely understood. 22457816 2012
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE Modifications to the MTHFR gene such as polymorphisms and promoter methylations are associated with male infertility. 23010533 2012
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE Although some modest bias could not be eliminated, this meta-analysis suggested that the MTHFR 677T allele might be a low-penetrant risk factor for male infertility, especially in Asian population. 21643754 2012
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE In conclusion, this meta-analysis supports that the MTHFR A1298C polymorphism is capable of causing male infertility susceptibility, especially azoospermia. 22175540 2012
CUI: C0021364
Disease: Male infertility
Male infertility
0.400 GeneticVariation phenotype BEFREE The overall results of the study indicate that MTHFR C677T polymorphism is not associated with male infertility. 21729137 2012