|
rs1217691063
|
|
Down Syndrome
|
|
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
|
|
Down Syndrome
|
|
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 |
|
rs1217691063
|
|
Down Syndrome
|
|
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 |
|
rs1217691063
|
|
Down Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
This study was aimed at analyzing the effect of mutations in three non-synonymous SNP genes (677C > T and 1298A > C of the methylenetetrahydrofolate reductase (MTHFR) gene, and 66A > G in the MTRR gene) on total plasmatic homocysteine (Hcy), in 91 mothers of Down syndrome (DS) infants and 90 control mothers.
|
16575899 |
2006 |
|
rs1217691063
|
|
Down Syndrome
|
|
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
|
|
Down Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
The authors have conducted a study to test whether 677C-->T and/or 1298A-->C polymorphisms of MTHFR would play an additional role in susceptibility of acute myeloid leukemia (AML) in DS children.
|
19065440 |
2008 |
|
rs1217691063
|
|
Down Syndrome
|
|
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 |
|
rs1217691063
|
|
Down Syndrome
|
|
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 |
|
rs1217691063
|
|
Down Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
In the present report, we asked whether variation at MTHFR (677C-->T) or MTRR (66A-->G) might be associated with human trisomies other than trisomy 21.
|
11443546 |
2001 |