|
rs1135401743
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |
|
rs1555471098
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs431905509
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The nitric oxide synthase 3 (NOS3) G594T polymorphism has been implicated in risk for spina bifida, and interactions between that single nucleotide polymorphism (SNP) and the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism have also been observed.
|
24323870 |
2013 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida.
|
12707953 |
2003 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Some data suggest that the risk for spina bifida</span> associated with C677T homozygosity may depend on nutritional status (e.g., blood folate levels, intake of vitamins) or on the genotype of other folate-related genes (e.g., cystathionine-beta-synthase and methionine synthase reductase).
|
10791559 |
2000 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our study provides evidence that the maternal C677T MTHFR homozygous mutant genotype is a risk factor for upper level spina bifida defects in Hispanics.
|
11074490 |
2000 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The polymorphic mutation C677T in the gene of MTHFR is considered a risk mutation for spina bifida and vascular disease.
|
10494095 |
1999 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Distribution of alleles of the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in familial spina bifida.
|
10594879 |
1999 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This population-based California study found a modestly increased risk of spina bifida among infants who were homozygous for the C677T genotype, but only minimal evidence of an interaction between the C677T genotype and maternal folic acid intake in the occurrence of spina bifida.
|
9663401 |
1998 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This study, as well as the meta-analysis we updated, shows that homozygosity for the MTHFR C677T mutation is a moderate risk factor in Europe, and even in Italy where there is a relatively low prevalence of spina bifida.
|
9863598 |
1998 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Evaluation of the MTHFR C677T allele and the MTHFR gene locus in a German spina bifida population.
|
9667406 |
1998 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Elevated plasma total homocysteine and C677T mutation of the methylenetetrahydrofolate reductase gene in patients with spina bifida.
|
9349452 |
1997 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These preliminary data suggest that the 677C-->T polymorphism of the MTHFR gene is a risk factor for spina bifida and anencephaly that may provide a partial biologic explanation for why folic acid prevents these types of NTD.
|
8826441 |
1996 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The 677C-->T mutation should be regarded as a genetic risk factor for spina bifida.
|
7564788 |
1995 |
|
rs1801394
|
|
|
0.030 |
GeneticVariation |
BEFREE |
With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0 for the following SNPs (heterozygous or homozygous) relative to the reference genotype: BHMT (rs3733890) OR = 1.8 (1.1-3.1), CBS (rs2851391) OR = 2.0 (1.2-3.1); CBS (rs234713) OR = 2.9 (1.3-6.7); MTHFD1 (rs2236224) OR = 1.7 (1.1-2.7); MTHFD1 (hcv11462908) OR = 0.2 (0-0.9); MTHFD2 (rs702465) OR = 0.6 (0.4-0.9); MTHFD2 (rs7571842) OR = 0.6 (0.4-0.9); MTHFR (rs1801133) OR = 2.0 (1.2-3.1); MTRR (rs162036) OR = 3.0 (1.5-5.9); MTRR (rs10380) OR = 3.4 (1.6-7.1); MTRR (rs1801394) OR = 0.7 (0.5-0.9); MTRR (rs9332) OR = 2.7 (1.3-5.3); TYMS (rs2847149) OR = 2.2 (1.4-3.5); TYMS (rs1001761) OR = 2.4 (1.5-3.8); and TYMS (rs502396) OR = 2.1 (1.3-3.3).
|
19493349 |
2009 |
|
rs1801394
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In our case-control study, the MTRR 66A>G polymorphism had no influence on spina bifida risk in children [odds ratio (OR) 0.6, 95% confidence interval (CI) 0.4-1.1].
|
17024475 |
2006 |
|
rs1801394
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We analyzed the role of the C677T polymorphism of the 5,10-methylenetetrahydrofolate and the A66G polymorphism of the methionine synthase reductase genes as risk factors for occurrence of spina bifida.
|
12590188 |
2003 |
|
rs4816
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Previous study has shown that PCMT1 polymorphisms rs4552 and rs4816 of infant are associated with spina bifida in the Californian population.
|
22647835 |
2012 |
|
rs3733890
|
|
|
0.020 |
GeneticVariation |
BEFREE |
With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0 for the following SNPs (heterozygous or homozygous) relative to the reference genotype: BHMT (rs3733890) OR = 1.8 (1.1-3.1), CBS (rs2851391) OR = 2.0 (1.2-3.1); CBS (rs234713) OR = 2.9 (1.3-6.7); MTHFD1 (rs2236224) OR = 1.7 (1.1-2.7); MTHFD1 (hcv11462908) OR = 0.2 (0-0.9); MTHFD2 (rs702465) OR = 0.6 (0.4-0.9); MTHFD2 (rs7571842) OR = 0.6 (0.4-0.9); MTHFR (rs1801133) OR = 2.0 (1.2-3.1); MTRR (rs162036) OR = 3.0 (1.5-5.9); MTRR (rs10380) OR = 3.4 (1.6-7.1); MTRR (rs1801394) OR = 0.7 (0.5-0.9); MTRR (rs9332) OR = 2.7 (1.3-5.3); TYMS (rs2847149) OR = 2.2 (1.4-3.5); TYMS (rs1001761) OR = 2.4 (1.5-3.8); and TYMS (rs502396) OR = 2.1 (1.3-3.3).
|
19493349 |
2009 |
|
rs1799983
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The 894G>T variant in the endothelial nitric oxide synthase gene and spina bifida risk.
|
17479212 |
2007 |