|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mothers with the 677C-->T mutation had a 2.6-fold higher risk of having a child with Down syndrome than did mothers without the T substitution (odds ratio: 2.6; 95% CI: 1.2, 5.8; P < 0.03).
|
10500018 |
1999 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recent studies have linked the increased frequency of polymorphism of methylenetetrahydrofolate reductase (MTHFR, C677T) and methionine synthase gene (MTRR, A66G) in mothers with DS child.
|
12626825 |
2003 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In contrast, MTHFR 677 C --> T has no influence on DS risk in France and Sicily, while homocysteine and MTR 2756 AG/GG genotypes are predictors of DS risk in Sicily.
|
14656028 |
2003 |
|
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 |
|
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 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The results are consistent with the preliminary observation 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 1.91 (95% confidence interval [CI] 1.19-3.05).
|
10930360 |
2000 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Present results seem to indicate that none of the RFC-1 80G>A, MTHFR 677C>T, and MTHFR 1298A>C polymorphisms is an independent risk factor for a DS offspring at a young maternal age; however, a role for the combined MTHFR/RFC-1 genotypes in the risk of DS pregnancies among young Italian women cannot be excluded.
|
16596679 |
2006 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil.
|
15889417 |
2005 |