|
rs2236225
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In summary, our meta-analysis strongly suggests that the MTHFD1 G1958A polymorphism might be associated with maternal risk for NTDs in Caucasian populations.
|
24977710 |
2014 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Haplotype tagging SNPs in the NOS genes were tested for genetic association with NTD subtypes, both for main effects as well as for the presence of interactions with the MTHFR C677T polymorphism.
|
24323870 |
2013 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Interaction between maternal 5,10-methylenetetrahydrofolate reductase C677T and methionine synthase A2756G gene variants to increase the risk of fetal neural tube defects in a Shanxi Han population.
|
23489792 |
2013 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A common C677T polymorphism in MTHFR has been associated with an increased risk for the development of cardiovascular disease, Alzheimer's disease, and depression in adults, and of neural tube defects in the fetus.
|
23116396 |
2013 |
|
rs1801394
|
|
|
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 |
|
rs1801394
|
|
|
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 |
|
rs1801394
|
|
|
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 |
|
rs2236225
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MTHFD1 p.R653Q has been proposed as a risk factor for neural tube defects (NTDs), congenital heart defects (CHDs) and pregnancy losses.
|
23704330 |
2013 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The results suggested the maternal MTHFR C677T polymorphism is a genetic risk factor for NTDs.
|
23056169 |
2012 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Gene variants in the folate metabolic pathway (e.g., MTHFR rs1801133 (677 C > T) and MTHFD1 rs2236225 (R653Q)) have been found to increase NTD risk.
|
22856873 |
2012 |
|
rs2236225
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The ten strongest association signals (p-value range: 0.0003-0.0023) were found in nine genes (MFTC, CDKN2A, ADA, PEMT, CUBN, GART, DNMT3A, MTHFD1 and T (Brachyury)) and included the known NTD risk factor MTHFD1 R653Q (rs2236225).
|
22856873 |
2012 |
|
rs2236225
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The ten strongest association signals (p-value range: 0.0003-0.0023) were found in nine genes (MFTC, CDKN2A, ADA, PEMT, CUBN, GART, DNMT3A, MTHFD1 and T (Brachyury)) and included the known NTD risk factor MTHFD1 R653Q (rs2236225).
|
22856873 |
2012 |
|
rs397507444
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This metaanalysis suggests that 5,10-methylenetetrahydrofolate reductase A1298C polymorphism is not associated with neural tube defect susceptibility in the white population.
|
22265089 |
2012 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The commonly associated maternal polymorphism 677C>T in the MTHFR gene did not predict risk of NTDs in the offspring (p > 0.05) and 1298A>C and 1781G>A polymorphisms in MTHFR were protective (p = 0.024 and 0.0004 respectively).
|
21770021 |
2011 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Although tHcy seems to be physiologically low in this Spanish population and unrelated to folate and B12 nutritional status, C677T MTHFR genotype, and some pregnancy complications, we support the statement that appropriate folate concentration may be important throughout pregnancy to prevent abnormalities associated with altered status (e.g., neural tube defects).
|
21367581 |
2011 |
|
rs397507444
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The commonly associated maternal polymorphism 677C>T in the MTHFR gene did not predict risk of NTDs in the offspring (p > 0.05) and 1298A>C and 1781G>A polymorphisms in MTHFR were protective (p = 0.024 and 0.0004 respectively).
|
21770021 |
2011 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
C677T allele frequencies in NTD children and their mothers were similar to those found in controls.
|
20589617 |
2010 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
No significant associations between the C677T and A1298C MTHFR gene polymorphisms and NTDs and no differences between the two main ethnic groups (white-Caucasians, Roma) were found in Slovakia.
|
20672355 |
2010 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The present study was conducted to evaluate the role of MTHFR 677 C-->T mutation as a risk factor for NTD in the South Indian population and to determine the relative importance of the genotypes in the affected child and its mother.
|
20887110 |
2010 |
|
rs1801394
|
|
|
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 |
|
rs397507444
|
|
|
0.100 |
GeneticVariation |
BEFREE |
No significant associations between the C677T and A1298C MTHFR gene polymorphisms and NTDs and no differences between the two main ethnic groups (white-Caucasians, Roma) were found in Slovakia.
|
20672355 |
2010 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A common polymorphism in the MTHFR gene (677C --> T) results in reduced enzymatic activity, and is associated with an increased risk for neural tube defects and cardiovascular disease.
|
19609317 |
2009 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs2236225
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We investigated this SNP as a potential risk factor for NTDs in a large homogenous Irish population and determined that it is not an independent risk factor, but, it does increase both case (chi (2) = 11.06, P = 0.001) and maternal (chi (2) = 6.68, P = 0.01) risk when allele frequencies were analysed in combination with the previously identified disease-associated p.R653Q (c.1958 G > A; dbSNP rs2236225) polymorphism.
|
19130090 |
2009 |