|
rs1801394
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The study aim to investigate MTHFR C677T, MTHFR A1298C, RFC1 A80G, MTR A2756G, CBS 844ins68, MTRR A66G polymorphisms in Down syndrome (DS) parents.
|
29130768 |
2017 |
|
rs1801394
|
|
|
0.100 |
GeneticVariation |
BEFREE |
There was evidence for an association between the MTRR c.66A>G</span> (rs1801394) polymorphism and maternal risk for DS.
|
25544792 |
2014 |
|
rs1801394
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Overall, present data suggest that the MTRR c.66A>G polymorphism represents a risk factor for the birth of a child with DS among white Caucasian women.
|
24965145 |
2014 |
|
rs1801394
|
|
|
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 |
|
rs1801394
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This meta-analysis indicates that maternal MTRR 66A>G polymorphism is associated with an increased risk of having a DS child.
|
23094987 |
2013 |
|
rs1801394
|
|
|
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 |
|
rs1801394
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This study aimed to investigate the role of maternal polymorphisms, as well as their risk genotypes combinations of MTR A2756G, MTRR A66G, CBS 844ins68, and RFC A80G, involved in folate/homocysteine metabolism, as possible risk factors for Down syndrome (DS) in Southern Brazil.
|
21045269 |
2010 |
|
rs1801394
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Polymerase chain reaction and restriction fragment length polymorphism were used to examine the polymorphisms of MTHFR 677C-->T, MTRR 66A-->G and the relationship between these genotypes and the risk of Down syndrome was analyzed.
|
18257130 |
2008 |
|
rs1801394
|
|
|
0.100 |
GeneticVariation |
BEFREE |
With the purpose of evaluating this relationship, we compared the frequencies of 677C>T and 1298A>C polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR) and 66A>G in the methionine synthase reductase gene (MTRR) between 103 young mothers of Down syndrome (DS) individuals and 108 control mothers, whose offspring was karyotypically normal, correlating it with an estimative of folate and - related micronutrients levels intake.
|
19096127 |
2008 |
|
rs1801394
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorphisms and the risk of DS were not found.
|
17934692 |
2007 |
|
rs1801394
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The methionine-synthase-reductase A66G, the methionine-synthase A2756G and the cystathionine-beta-synthase 844ins68 polymorphisms were not associated with increased risk of Down syndrome.
|
16845273 |
2006 |
|
rs1801394
|
|
|
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 |
|
rs1801394
|
|
|
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 |
|
rs1801394
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Contradictory findings have been recently published on the evaluation of genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR 677 C-->T) and methionine synthase reductase (MTRR 66 A-->G) as risk factors for having a child with Down syndrome (DS); however, the influence of polymorphisms of methionine synthase (MTR 2756 A-->G) and of MTHFR 1298 A-->C has never been evaluated.
|
12923861 |
2003 |
|
rs1801394
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MTHFR 677 C --> T and MTRR 66 A --> G polymorphisms are associated with a greater risk of having a child with DS in North America, Ireland and The Netherlands.
|
14656028 |
2003 |
|
rs1801394
|
|
|
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 |
|
rs1801394
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, MTRR A66G is significantly more common in mothers of children with Down syndrome but does not appear to increase the risk for Down syndrome by changing homocysteine metabolism.
|
11807890 |
2002 |
|
rs1801394
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The frequencies of the MTHFR 677C-->T and MTRR 66A-->G mutations were evaluated in DNA samples from 157 mothers of children with Down syndrome and 144 control mothers.
|
10930360 |
2000 |