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: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE In the father group, MTHFR C677T was a risk factor for NTDs. 31238314 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE Here, we report on 3 men with hyperhomocysteinemia and the MTHFR C677T homozygous TT genotype that have reproductive histories of fetal NTDs. 30633186 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE MTHFR C677T, but not A1298C, was associated with neural tube defects (OR, 1.24; 95% CI, 1.08-1.42) and Down syndrome (OR, 1.65; 95% CI, 1.39-1.95). 30474229 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE For MTHFR rs1801133 polymorphism, mothers having TT and CT genotypes were more likely to affect NTDs in the offspring (OR = 4.105, 95%CI: 1.271-13.258; OR = 3.333, 95%CI: 1.068-10.400). 30867013 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE Low maternal folate concentrations and maternal MTHFR C677T polymorphism are associated with an increased risk for neural tube defects in offspring: a case-control study among Pakistani case and control mothers. 29222906 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 Biomarker group BEFREE This study aims to evaluate the association between genetic defects in folate metabolism pathway genes, mainly: Folate hydrolase 1 (FOLH1), Dihydrofolate reductase (DHFR) and Methylenetetrahydrofolate reductase (MTHFR) and neural tube defects from eastern India. 30120883 2018
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE In view of the increased susceptibility of women with the TT genotype of MTHFR to give birth to infants with neural tube defects as well as the effectiveness of formate supplementation in decreasing the incidence of folate-resistant neural tube defects in susceptible mice, it will be important to understand how this genotype decreases the serum formate concentration. 29566195 2018
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE Our results suggest that rs2236225 of MTHFD1 gene, rs1801133 of MTHFR gene and rs1801394 of MTRR gene were associated with NTDs in Han population of Northern China. 29392422 2018
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE The methylenetetrahydrofolate reductase (MTHFR) polymorphism is a risk factor for neural tube defects. 27173682 2016
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE In this study, the genotype distribution of the MTHFR gene A1298C polymorphism and the levels of serum homocysteine, vitamin B12, and folate were evaluated in 33 children with NTDs, their mothers, and 46 healthy controls. 27323133 2016
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE In conclusion, present meta-analysis supports that the maternal MTHFR C677T and MTRR A66G are polymorphisms contributory to risk for NTD. 25005003 2015
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE Variants in MTHFR gene and neural tube defects susceptibility in China. 25855017 2015
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE The interaction of COMT rs737865 and MTHFR C677T was associated with an increased risk of NTDs, especially anencephaly, in a Chinese population with a high prevalence of NTDs. 24990354 2015
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE The association of the C677T polymorphism in the MTHFR gene and NTD susceptibility has been widely demonstrated, but the results are inconclusive. 25808073 2015
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE The methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism is a risk factor for neural tube defects. 25788000 2015
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE Preliminary evidence has suggested that there may be a much greater need for women with the MTHFR 677TT genotype to adhere to the specific recommendation of commencing folic acid prior to conception for the prevention of NTD, but this requires further investigation. 24131523 2014
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE C677T mutation in methylenetetrahydrofolate reductase gene and neural tube defects: should Japanese women undergo gene screening before pregnancy? 24588777 2014
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE The increased incidence of NTDs in mothers homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism stresses the need for careful metabolic screening in pregnant women, and, if necessary, determination of the MTHFR 677CT genotype in those mothers at risk of developing abnormal carbohydrate metabolism. 24737468 2014
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE Our meta-analysis strongly suggested a significant association of the variant MTHFR C677T and a suggestive association of RFC-1 A80G with increased risk of NTDs. 23593147 2013
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE A common C677T polymorphism in MTHFR has been associated with an increased risk for the development of cardiovascular disease, Alzheimer's disease, and depression in adults, and of neural tube defects in the fetus. 23116396 2013
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE Interaction between maternal 5,10-methylenetetrahydrofolate reductase C677T and methionine synthase A2756G gene variants to increase the risk of fetal neural tube defects in a Shanxi Han population. 23489792 2013
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE Haplotype tagging SNPs in the NOS genes were tested for genetic association with NTD subtypes, both for main effects as well as for the presence of interactions with the MTHFR C677T polymorphism. 24323870 2013
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 Biomarker group BEFREE Only the association between MTHFR and NTD-risk remained significant after multiple testing correction. 24223810 2013
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE Gene variants in the folate metabolic pathway (e.g., MTHFR rs1801133 (677 C > T) and MTHFD1 rs2236225 (rs2236225" genes_norm="1788;4522">R653Q)) have been found to increase NTD risk. 22856873 2012
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE For mothers in the lowest folate-intake group, risk of NTDs in offspring was significantly decreased for maternal MTHFR SNPs rs1476413, rs1801131, and rs1801133 (odds ratio [OR] = 0.55, 80% confidence interval [CI]: 0.20, 1.48; OR = 0.58, 80% CI: 0.24, 1.43; OR = 0.69, 80% CI: 0.41, 1.17, respectively), and TYMS SNPs rs502396 and rs699517 (OR = 0.91, 80% CI: 0.53, 1.56; OR = 0.70, 80% CI: 0.38, 1.29). 22903727 2012