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rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MTHFR C677T, but not A1298C, was associated with neural tube defects (OR, 1.24; 95% CI, 1.08-1.42) and Down syndrome (OR, 1.65; 95% CI, 1.39-1.95).
|
30474229 |
2019 |
|
rs397507444
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MTHFR C677T, but not A1298C, was associated with neural tube defects (OR, 1.24; 95% CI, 1.08-1.42) and Down syndrome (OR, 1.65; 95% CI, 1.39-1.95).
|
30474229 |
2019 |
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rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Polymorphisms in certain folate-Hcy-pathway genes (especially the T allele of MTHFR C677T), elevated Hcy and poor folate levels in mothers during pregnancy have been shown to be risk factors for Down syndrome in certain Asian populations (including the eastern region of India), while the same SNPs are not a risk factor in European populations.
|
26040482 |
2015 |
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rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The pooled OR was estimated under five genetic models and significant association was found between maternal MTHFR 677C>T polymorphism and Down syndrome under four genetic models except recessive model (for T vs. C, OR = 1.26, 95% CI = 1.09-1.46, p = 0.001; for TT vs. CC, OR = 1.49, 95% CI = 1.13-1.97, p = 0.008; for CT vs. CC, OR = 1.29, 95% CI = 1.10-1.51, p = 0.001; for TT+CT vs. CC, OR = 1.35, 95% CI = 1.13-1.60, p = 0.0008; for TT vs. CT+CC, OR = 0.76, 95% CI = 0.60-0.94, p = 0.01).
|
25265565 |
2014 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Overall analysis suggests an association of the MTHFR C677T polymorphism with maternal risk for DS.
|
24913031 |
2014 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
However, when gene-gene interactions between these two polymorphisms together with previous studied C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene were analyzed, the combined MTHFR 677CT/TT and MTHFD 1958AA/GA genotype was found to be significantly associated with the risk of having a Down syndrome child [odds ratio (OR) = 3.11; 95% confidence interval (95%CI) = 1.07-9.02].
|
24668664 |
2014 |
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rs397507444
|
|
|
0.100 |
GeneticVariation |
BEFREE |
However, when gene-gene interactions between these two polymorphisms together with previous studied C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene were analyzed, the combined MTHFR 677CT/TT and MTHFD 1958AA/GA genotype was found to be significantly associated with the risk of having a Down syndrome child [odds ratio (OR) = 3.11; 95% confidence interval (95%CI) = 1.07-9.02].
|
24668664 |
2014 |
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rs397507444
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Moreover, no association between the MTHFR A1298C polymorphism and maternal risk for DS was found.
|
24913031 |
2014 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, MTHFR 677C > T polymorphism is a moderate risk factor for DS for some populations, and populations located in Sub-Tropical region seem to be at greater risk.
|
23184006 |
2013 |
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rs1217691063
|
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|
0.100 |
GeneticVariation |
BEFREE |
This meta-analysis supports the idea that MTHFR C677T genotype is associated with increased risk for DS offspring.
|
23295071 |
2013 |
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rs1217691063
|
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|
0.100 |
GeneticVariation |
BEFREE |
Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring.
|
24068460 |
2013 |
|
rs397507444
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring.
|
24068460 |
2013 |
|
rs397507444
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Associations between MTHFR A1298C and the risk of having a child with DS were not found.
|
23295071 |
2013 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The frequency of MTHFR C677T allele in all DS mothers was 3.2-fold higher than in the controls (odds ratio [OR] = 3.12, 95% confidence interval [CI]: 1.303-7.677).
|
21198396 |
2011 |
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rs397507444
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|
0.100 |
GeneticVariation |
BEFREE |
The aim of this study was to test if C677T and A1298C polymorphisms are correlated to maternal risk of DS in Jordan.
|
21198396 |
2011 |
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rs1217691063
|
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|
0.100 |
GeneticVariation |
BEFREE |
This study aimed to analyze a dataset of genetic and cytogenetic data in an Italian group of MDS and mothers of healthy children (control mothers) to assess the predictive capacity of artificial neural networks assembled in TWIST system in distinguish consistently these two different conditions and to identify the variables expressing the maximal amount of relevant information to the condition of being mother of a DS child.The dataset consisted of the following variables: the frequency of chromosome damage in peripheral lymphocytes (BNMN frequency) and the genotype for 7 common polymorphisms in folate metabolic genes (MTHFR 677C>T and 1298A>C, MTRR 66A>G, MTR 2756A>G, RFC1 80G>A and TYMS 28bp repeats and 1494 6bp deletion).
|
20868477 |
2010 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Understanding the biochemical structure and function of the methylenetetrahydrofolate reductase gene (MTHFR) provides new evidence in elucidating the risk of having a child with Down syndrome (DS) in association with two common MTHFR polymorphisms, C677T and A1298C.
|
20592453 |
2010 |
|
rs397507444
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This study aimed to analyze a dataset of genetic and cytogenetic data in an Italian group of MDS and mothers of healthy children (control mothers) to assess the predictive capacity of artificial neural networks assembled in TWIST system in distinguish consistently these two different conditions and to identify the variables expressing the maximal amount of relevant information to the condition of being mother of a DS child.The dataset consisted of the following variables: the frequency of chromosome damage in peripheral lymphocytes (BNMN frequency) and the genotype for 7 common polymorphisms in folate metabolic genes (MTHFR 677C>T and 1298A>C, MTRR 66A>G, MTR 2756A>G, RFC1 80G>A and TYMS 28bp repeats and 1494 6bp deletion).
|
20868477 |
2010 |
|
rs397507444
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Understanding the biochemical structure and function of the methylenetetrahydrofolate reductase gene (MTHFR) provides new evidence in elucidating the risk of having a child with Down syndrome (DS) in association with two common MTHFR polymorphisms, C677T and A1298C.
|
20592453 |
2010 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We conclude that the common MTHFR 677C>T polymorphism is not likely to be a maternal risk factor for DS in our cohort and that the difference to previous studies can probably be explained by small sample size or geographic variation in gene polymorphisms involving gene-nutritional or gene-gene or gene-nutritional-environmental factors.
|
20075510 |
2009 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects.
|
19725133 |
2009 |
|
rs397507444
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects.
|
19725133 |
2009 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The results show that the MTHFR 677C-->T polymorphism is more prevalent among mothers of children with Down syndrome than among control mothers, with an odds ratio of 3.78 (95% confidence interval (CI), 1.78 approximately 8.47).
|
18257130 |
2008 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The present study aimed at evaluation of MTHFR 677C/T and 1298A/C polymorphisms in the MTHFR gene as maternal risk factors for DS.
|
18057532 |
2008 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS).
|
18273817 |
2008 |