|
rs397507444
|
|
Neural Tube Defects
|
|
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
|
|
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 |
|
rs397507444
|
|
Neural Tube Defects
|
|
0.100 |
GeneticVariation
|
BEFREE |
Thus, the A1298C polymorphism cannot be regarded as a major risk factor for NTDs.
|
27323133 |
2016 |
|
rs397507444
|
|
Neural Tube Defects
|
|
0.100 |
GeneticVariation
|
BEFREE |
However, the 1298 A > C polymorphism was shown to lower the risk of NTD-affected pregnancy.
|
25855017 |
2015 |
|
rs397507444
|
|
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 |
|
rs397507444
|
|
Neural Tube Defects
|
|
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 |
|
rs397507444
|
|
Neural Tube Defects
|
|
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 |
|
rs397507444
|
|
Neural Tube Defects
|
|
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 |
|
rs397507444
|
|
Neural Tube Defects
|
|
0.100 |
GeneticVariation
|
BEFREE |
The polymorphism A1298C-MTHFR is not associated with NTDs, except for mothers, suggesting only a maternal association with having NTD-affected offspring in the Yucatan population.
|
17621650 |
2007 |
|
rs397507444
|
|
Neural Tube Defects
|
|
0.100 |
GeneticVariation
|
BEFREE |
We conducted a case-control study specifically for anencephaly, based on the Mexican Epidemiological Surveillance System of Neural Tube Defects to evaluate its association with maternal MTHFR 677C > T and 1298A > C polymorphisms, in three states with high frequencies of NTDs: Puebla, Estado de México and Guerrero.
|
17439956 |
2007 |
|
rs397507444
|
|
Neural Tube Defects
|
|
0.100 |
GeneticVariation
|
BEFREE |
We did not find any significant association of 1298A-->C polymorphism with the level of NTDs.
|
17085942 |
2007 |
|
rs397507444
|
|
Neural Tube Defects
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two common polymorphisms (677C>T and 1298A>C) in the gene coding for MTHFR have been shown to reduce MTHFR enzyme activity and were associated with the susceptibility to different disorders, including vascular disease, neural tube defects and lymphoid malignancies.
|
15921520 |
2005 |
|
rs397507444
|
|
Neural Tube Defects
|
|
0.100 |
GeneticVariation
|
BEFREE |
Levels of folate, vitamin B12, total homocysteine (t-Hcy) and the 677C>T and 1298A>C polymorphisms of the MTHFR gene were analyzed in 41 NTD child-mother pairs and 44 normal child-mother control pairs.
|
15259035 |
2004 |
|
rs397507444
|
|
Neural Tube Defects
|
|
0.100 |
GeneticVariation
|
BEFREE |
The methylenetetrahydrofolate reductase (MTHFR) 677C>T and 1298A>C polymorphisms cause elevated homocysteine concentration and are associated with an increased risk of NTD.
|
14969589 |
2004 |
|
rs397507444
|
|
Neural Tube Defects
|
|
0.100 |
GeneticVariation
|
BEFREE |
Furthemore, according to the multifactorial inheritance of NTDs, we demonstrated that the combined genotypes for MTHFR 1298A-->C and RFC-1 80A-->G polymorphisms of cases resulted in greater NTD risk than heterozygosity or homozygosity for RFC-1 80A-->G variant alone.
|
12673279 |
2003 |
|
rs397507444
|
|
Neural Tube Defects
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our findings do not support a role for the 1298A-->C polymorphism in NTDs (OR 0.85 (95% CI 0.49-1.47), p= 0.55), nor do we observe a combined effect with the 677C-->T polymorphism.
|
12730722 |
2003 |
|
rs397507444
|
|
Neural Tube Defects
|
|
0.100 |
GeneticVariation
|
BEFREE |
Although the A1298C polymorphism is common in the Italian population (0.25), the allelic frequency was significantly higher among NTD cases and their parents.
|
12111380 |
2002 |
|
rs397507444
|
|
Neural Tube Defects
|
|
0.100 |
GeneticVariation
|
BEFREE |
C677T and A1298C allele frequencies in NTDs children and mothers were similar to that found in controls.
|
11880124 |
2002 |
|
rs397507444
|
|
Neural Tube Defects
|
|
0.100 |
GeneticVariation
|
BEFREE |
Previous studies have demonstrated that both homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, and combined heterozygosity for the C677T and for another mutation in the same gene, the A1298C polymorphism, represent genetic risk factors for NTDs.
|
11102926 |
2000 |
|
rs397507444
|
|
Neural Tube Defects
|
|
0.100 |
GeneticVariation
|
BEFREE |
The C677T and A1298C mutations in the methylenetetrahydrofolate reductase (MTHFR) gene are associated with an increased risk of NTD and cause elevated Hcy concentrations.
|
10986435 |
2000 |
|
rs397507444
|
|
Neural Tube Defects
|
|
0.100 |
GeneticVariation
|
BEFREE |
Recently we discovered the first genetic risk factors for NTDs: the 677 C-->T and the 1298 A-->C mutations in the methylenetetrahydrofolate reductase gene explaining at the most 35-50% of the protective effect of folate.
|
10234517 |
1999 |