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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 |
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 |
|
rs1805087
|
|
|
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 |
|
rs1805087
|
|
|
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 |
|
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 |
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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 |
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rs1217691063
|
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|
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 |
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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 |
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 |
|
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 |
|
rs1217691063
|
|
|
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
|
|
|
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 |
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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 |
|
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 |
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 |
|
rs1805087
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome.
|
18060320 |
2008 |
|
rs1805087
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS.
|
18273817 |
2008 |
|
rs397507444
|
|
|
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 |
|
rs397507444
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We here report on the first pilot study of the possible genetic association between DS and MTHFR 1298A/C genotypes among Egyptians.
|
18057532 |
2008 |
|
rs397507444
|
|
|
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 |
|
rs397507444
|
|
|
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
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A meta-analysis of 11 case-control studies relating MTHFR C677T, MTHFR A1298C and MTRR A66G gene polymorphisms to the maternal risk of DS was carried out.
|
17934692 |
2007 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The aim of the present study was to evaluate chromosome damage, measured by means of the micronucleus assay, in peripheral lymphocytes of a group of women (n = 34) who had a DS child in young age (<35 years) and in a control group (n = 35), and to correlate them with MTHFR 677C > T and 1298A > C, RFC-1 80G > A and MTR 2756A > G polymorphisms.
|
17702010 |
2007 |
|
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 |