Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
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 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
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 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
There was evidence for an association between the MTRR c.66A>G (rs1801394) polymorphism and maternal risk for DS.
|
25544792 |
2014 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Online major databases were searched to identify case-control studies regarding MTRR 66A>G polymorphism and DS.
|
23094987 |
2013 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MTRR C524T polymorphism decreases the risk of DS in the Chinese population.
|
22925068 |
2013 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
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 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In a group of 121 case families (mother, father, and proband with DS and AVSD) and 122 control families (mother, father, and proband with DS and no CHD), tag SNPs were genotyped in and around five folate pathway genes: 5,10-methylenetetrahyrdofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), cystathionine beta-synthase (CBS), and the reduced folate carrier (SLC19A1, RFC1).
|
20718043 |
2010 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
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 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The results show that individual polymorphisms studied in this work are not associated with DS; however, the effects of the combined risk genotypes among MTR, MTRR, CBS and RFC genes are considered maternal risk factors for DS offspring in our population.
|
21045269 |
2010 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MTHFR and MTRR gene mutation alleles are related to Down syndrome, and CT, TT and GG gene mutation types increase the risk of Down syndrome.
|
18257130 |
2008 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
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 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
MTHFR and MTRR gene mutation alleles are related to Down syndrome, and CT, TT and GG gene mutation types increase the risk of Down syndrome.
|
18257130 |
2008 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
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 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorphisms and the risk of DS were not found.
|
17934692 |
2007 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
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 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?
|
16575899 |
2006 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
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 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recent evidence has suggested that 5,10-methylenetetrahydrofolate reductase (MTHFR) and/or methionine synthase reductase (MTRR) might contribute to the maternal risk of trisomy 21.
|
16115349 |
2005 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The double heterozygosity MTR 2756 AG/MTRR 66 AG was the single combined genotype that was a significant risk factor for having a DS child, with an OR estimated at 5.0 (95% CI: 1.1-24.1), after adjustment for t-Hcys.
|
12923861 |
2003 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
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 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
The double heterozygosity MTR 2756 AG/MTRR 66 AG was the single combined genotype that was a significant risk factor for having a DS child, with an OR estimated at 5.0 (95% CI: 1.1-24.1), after adjustment for t-Hcys.
|
12923861 |
2003 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
At the same time, micronucleus data indicate that the MTRR 66GG variant may represent another individual trait of relative genomic instability, thus supporting epidemiological data on increased risk of Down syndrome conception in MTRR 66GG subjects.
|
12807760 |
2003 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, the Irish study did find an increased risk of DS associated with the MTRR polymorphism and an interactive effect of MTRR and MTHFR polymorphisms with increased risk.
|
12626825 |
2003 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Women who have both the MTRR and MTHFR variant genotypes are also at increased risk of producing offspring with Down syndrome.
|
11807890 |
2002 |
Down Syndrome
|
0.100 |
GeneticVariation
|
disease |
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 |