Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.100 GeneticVariation BEFREE MTHFR (C677T, A1298C) and MTRR A66G polymorphisms were found to be protector factors for NTD fetuses in the mother group. 31238314 2019
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.100 GeneticVariation 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
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.100 GeneticVariation BEFREE Overall, we found that maternal MTHFR C677T polymorphism (OR(TvsC) =1.20; 95% CI = 1.13-1.28) and MTRR A66G polymorphism (OR(GvsA) = 1.21; 95% CI = 0.98-1.49) were risk factors for producing offspring with NTD but maternal MTHFR A1298C polymorphism (OR(CvsA) = 0.91; 95% CI = 0.78-1.07) was not associated with NTD risk. 25005003 2015
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.100 GeneticVariation BEFREE The further meta-analysis enhance that MTRR 66A>G was connected with the susceptibility of NTDs widely. 26334892 2015
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.100 GeneticVariation BEFREE The present meta-analysis indicated that MTRR A66G polymorphism, but not MTR A2756G, is significantly associated with maternal risk for NTDs in Caucasians. 23266814 2013
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.100 GeneticVariation BEFREE The present meta-analyses indicate that MTR A2756G and MTRR A66G polymorphism are not associated with NTD risks in Caucasian children. 23425389 2013
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.100 GeneticVariation BEFREE However, we found no significant effects of MTHFR A1298C, MTR A2756G, MTRR A66G in risk of NTDs in dominant, recessive or in allelic models. 23593147 2013
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.100 GeneticVariation BEFREE To investigate the role of four parental folate pathway single nucleotide polymorphisms (SNPs) i.e., methylene tetrahydrofolate reductase (MTHFR) 677C>T, MTHFR 1298A>C, methionine synthase reductase (MTRR) 66A>G and glutamate carboxypeptidase (GCP) II 1561C>T on susceptibility to neural tube defects (NTDs) in 50 couples with NTD offspring and 80 couples with normal pregnancy outcome. 20047525 2010
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.100 GeneticVariation BEFREE Meta-analyses were conducted to set the results of the case-control study in the context of eligible literature on the relation between the MTRR 66A>G variant and NTD risk. 17024475 2006
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.100 GeneticVariation BEFREE No association was found between NTD</span>s and I22M </span>in mothers (p = 0.16, OR1.14 [0.95-1.38], n = 447) or cases (p = 0.13, OR1.15 [0.96-1.38], n = 470) compared to controls (n = 476). 15979034 2005
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.100 GeneticVariation BEFREE The MTHFR 677C-->T polymorphism was shown to represent a risk factor in NTD cases (CC v CT+TT odds ratio (OR) 2.03 [95% confidence interval (CI) 1.09, 3.79] p = 0.025) and the MTRR 66A-->G</span> polymorphism was shown to exert a protective effect in NTD cases (AA v AG+GG OR 0.31 [95% CI 0.10, 0.94] p = 0.04). 15060097 2004
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.100 GeneticVariation BEFREE We detected MTR A2756G and MTRR A66G polymorphisms using PCR-RFLP analysis in a group of NTD infants, their mothers and normal controls. 12649067 2003
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.100 GeneticVariation BEFREE This polymorphorism, 66A-->G (I22M), has an allele frequency of 0.51 and increases NTD risk when cobalamin status is low or when the MTHFR mutant genotype is present. 10444342 1999