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: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE With the exception of spina bifida, for which maternal MTHFR genotype is associated with risk in the offspring, and corroborates other evidence of the importance of folate in etiology, there was little evidence that the pathways influenced by genetic variation are related to known lifestyle or environmental exposures. 27713094 2017
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 Biomarker disease CTD_human With the exception of spina bifida, for which maternal MTHFR genotype is associated with risk in the offspring, and corroborates other evidence of the importance of folate in etiology, there was little evidence that the pathways influenced by genetic variation are related to known lifestyle or environmental exposures. 27713094 2017
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE Analysis of genotypes for the methylenetetrahydrofolate reductase (MTHFR) 677CT polymorphism in women with or without risk factors for abnormal carbohydrate metabolism revealed that mothers who were homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism were more likely to have offspring with spina bifida and high levels of homocysteine, compared to the control group. 24737468 2014
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE In conclusion, it is not necessary for Japanese women to undergo genetic screening C677T mutation of the MTHFR gene as a predictive marker for spina bifida prior to pregnancy, because the TT genotype is not a risk factor for having an affected infant. 24588777 2014
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 Biomarker disease BEFREE Our data extend the previous findings by implicating a role for all three NOS genes, independently and through interactions with MTHFR, in risk not only for spina bifida, but all NTD subtypes. 24323870 2013
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE Consistent with previous reports, spina bifida was associated with MTHFR 677C>T, T (Brachyury) rs3127334, LEPR K109R, and PDGFRA promoter haplotype combinations. 21204206 2011
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 Biomarker disease BEFREE Transmission disequilibrium of SNP alleles in cystathionine-beta-synthase, dihydrofolate reductase, methylenetetrahydrofolate reductase, and thymidylate synthetase confers an increased susceptibility to SB. 19683694 2009
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 Biomarker disease BEFREE Haplotype reconstruction showed statistical evidence of nonrandom associations with TYMS, MTHFR, BHMT and MTR for spina bifida. 19493349 2009
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE The results of these analyses indicate that, if maternal CCL-2 genotype is related to the risk of spina bifida, this relationship is likely to be more complex than initially hypothesized, perhaps depending upon folate intake, MTHFR 677C>T genotype, the distribution of folate derivatives, and immune/inflammatory activity. 18937353 2008
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE In combination with the MTHFR 677TT genotype or elevated plasma homocysteine concentrations, the NOS3 894GT/TT genotype increased maternal spina bifida risk (OR 4.52, 95%CI 1.55-13.22 and OR 3.38, 95%CI 1.46-7.84, respectively). 17479212 2007
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease LHGDN Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida. 12590188 2003
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE Two common polymorphisms in the MTHFR gene (C677T and A1298C) have been described and studies suggest that these polymorphisms are positively associated with the occurrence of spina bifida (SB). 12707953 2003
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease LHGDN Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects. 12797455 2003
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 Biomarker disease BEFREE We evaluated the association of polymorphisms of three genes affecting vitamin B12-dependent remethylation of homocysteine, transcobalamin (TC), methionine synthase (MTR) and MTR reductase (MTRR), combined or not with methylenetetrahydrofolate reductase (MTHFR), with the risk of having neural tube defect in 40 children with spina bifida and 58 matched controls from South Italy. 12812837 2003
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE No Cree mothers of children with spina bifida were homozygous for the 677C-T polymorphism of MTHFR. 12546192 2002
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 Biomarker disease BEFREE Methylenetetrahydrofolate reductase and spina bifida: evaluation of level of defect and maternal genotypic risk in Hispanics. 11074490 2000
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE Altered folate metabolism and disposition in mothers affected by a spina bifida pregnancy: influence of 677c --> t methylenetetrahydrofolate reductase and 2756a --> g methionine synthase genotypes. 10833329 2000
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE The polymorphic mutation C677T in the gene of MTHFR is considered a risk mutation for spina bifida and vascular disease. 10494095 1999
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE Distribution of alleles of the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in familial spina bifida. 10594879 1999
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE Recently we were able to show that homozygosity for a thermolabile variant of the enzyme methylenetetrahydrofolate reductase is associated with an increased risk for spina bifida in patients recruited from the Dutch population. 9611072 1998
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE Evaluation of the MTHFR C677T allele and the MTHFR gene locus in a German spina bifida population. 9667406 1998
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy. 9863598 1998
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida. 9663401 1998
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE Elevated plasma total homocysteine and C677T mutation of the methylenetetrahydrofolate reductase gene in patients with spina bifida. 9349452 1997
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.500 GeneticVariation disease BEFREE The common 677C-->T mutation (+) in the 5,10-methylenetetrahydrofolate reductase gene, resulting in decreased activity of the enzyme, has been associated with spina bifida neural tube defects (NTD). 9068801 1997