MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Disease: Neural Tube Defects ×
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 LHGDN Non-Latin European descent could be a requirement for association of NTDs and MTHFR variant 677C > T: a meta-analysis. 17618486 2007
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 LHGDN Thrombophilia-associated gene mutations in women with pregnancies complicated by fetal neural tube defects. 18068170 2008
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE Omphalocele cases were significantly more likely to carry the T allele of MTHFR 677C-->T, a known risk factor for NTDs (odds ratio 3.50, 95% confidence interval 1.07-11.47, P=0.035). 15937947 2005
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE Correlation of polymorphism of MTHFRs and RFC-1 genes with neural tube defects in China. 18022874 2008
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE Low folate intake as well as alterations in folate metabolism as a result of polymorphisms in the enzyme methylenetetrahydrofolate reductase (MTHFR) have been associated with an increased incidence of neural tube defects, vascular disease, and some cancers. 11274424 2001
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE A similar allele frequency in groups M and NTD does not support a causal relationship between NTD and parental MTHFR C677T genotypes. 10998450 2000
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE When broken down into the various 677 ct MTHFR and 2756ag MetSyn genotypes, carriage of the 677ct MTHFR allele appears to affect formyl-H(4)PteGlu metabolism in non-NTD mothers. 10833329 2000
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group LHGDN MTHFR 677C-->T and 1298A-->C polymorphisms: evaluation of maternal genotypic risk and association with level of neural tube defect. 17085942 2007
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group LHGDN Analysis of data for the studied population does not prove the influence of mutations 677C-->T and 1298A-->C of MTHFR gene on NTDs. 12810988 2003
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 Moreover, some authors demonstrated association of the C-->T mutation (C677T), converting an alanine to a valine residue in 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, with other congenital anomalies such as neural tube defects (NTDs). 11170082 2001
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE The aim of this study was to evaluate whether the cytosine-to-thymine mutation at base 677 of the methylenetetrahydrofolate reductase gene (MTHFR C677T), which has been associated with neural tube defects and congenital oral cleft, is also associated with tetralogy of Fallot (TF), a congenital heart disease. 19894660 2009
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE A common mutation, C677T, in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene leads to altered homocysteine metabolism, and has been associated with the occurrence of neural tube defects (NTD). 11337744 2001
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group. 10732818 1997
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE Folate deficiency and the presence of the 677C > T (CT) polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene have been implicated in the causation of malformations in the fetus (particularly cleft lip and palate and neural tube defects). 17951123 2008
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE Recently, an association between the homozygous C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in infants with congenital neural tube defects or congenital oral clefts has been shown. 11470464 2001
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE Levels of folate, vitamin B12, total homocysteine (t-Hcy) and the 677C>T and 1298A>C polymorphisms of the MTHFR gene were analyzed in 41 NTD child-mother pairs and 44 normal child-mother control pairs. 15259035 2004
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE Conversely, our data provide no evidence for an association between NTD phenotype and combined MTHFR C677T/RFC-1 A80G genotypes. 12673279 2003
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE The authors studied association of polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, which encodes enzymes of the folate pathway (implicated in causation of neural tube defects [NTDs]), in patients with AAD. 18074687 2007
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE We designed molecular beacons to detect a point mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, a mutation that has been related to an increased risk for cardiovascular disease and neural tube defects. 9510851 1998
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE A variant form of methylenetetrahydrofolate reductase (MTHFR) (677C-->T) is a known risk factor for NTDs, but the prevalence of the risk genotype explains only a small portion of the protective effect of folic acid. 12384833 2002
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group LHGDN In conclusion, homozygosity for the C677T mutation in the MTHFR gene does not constitute a genetic risk factor for coronary artery diseases and neural tube defects in the Indonesian Javanese population. 12594357 2002
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE Altered folate status and homozygous TT mutation in the MTHFR gene in both mother and child would be expected to increase the risk of neural tube defects. 11568918 2001
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE Association of the 677C-->T mutation on the methylenetetrahydrofolate reductase gene in Turkish patients with neural tube defects. 10190266 1999