Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MTRR C524T polymorphism decreases the risk of DS in the Chinese population.
|
22925068 |
2013 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 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 |
Complete Trisomy 21 Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, recent reports linking Down syndrome to maternal polymorphisms at either of two folate metabolism enzymes, methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR), have generated considerable interest.
|
11443546 |
2001 |
Complete Trisomy 21 Syndrome
|
0.100 |
GeneticVariation
|
disease |
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 |