Spina Bifida
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
Spina Bifida
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We studied the frequency of the 677C-->T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in 55 patients with spina bifida and parents of such patients (70 mothers, 60 fathers).
|
7564788 |
1995 |
Spina Bifida
|
0.500 |
GeneticVariation
|
disease |
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 |
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 |
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 |
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 |
Spina Bifida
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida.
|
9663401 |
1998 |
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 |
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 |
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 |
Spina Bifida
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Distribution of alleles of the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in familial spina bifida.
|
10594879 |
1999 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |