Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4548
Gene Symbol: MTR
MTR
0.100 GeneticVariation disease BEFREE The case-control study revealed association of the polymorphism with increased folate levels, and a possible interaction with the methionine synthase (MTR) c.2756A>G one, that resulted in a borderline significant maternal risk of birth of a child with DS for the double heterozygous MTR 2756AG/MTRR 66AG genotype [OR 1.79 (95 % CI 1.00-3.18)]. 24965145 2014
Entrez Id: 4548
Gene Symbol: MTR
MTR
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
Entrez Id: 4548
Gene Symbol: MTR
MTR
0.100 GeneticVariation disease BEFREE Both the case-control study and the meta-analysis showed no association of MTR 2756A>G with the maternal risk of birth of a child with DS (OR = 1.15; 95 % CI 0.85-1.55, and OR = 1.08; 95 % CI 0.93-1.25, respectively), even after stratification of the overall data available for the meta-analysis into ethnic groups. 24150725 2013
Entrez Id: 4548
Gene Symbol: MTR
MTR
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
Entrez Id: 4548
Gene Symbol: MTR
MTR
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
Entrez Id: 4548
Gene Symbol: MTR
MTR
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
Entrez Id: 4548
Gene Symbol: MTR
MTR
0.100 GeneticVariation disease BEFREE Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome. 19729796 2009
Entrez Id: 4548
Gene Symbol: MTR
MTR
0.100 GeneticVariation disease BEFREE The combined MTHFR 677TT/MTR 2756AA genotype was associated with increased DS risk (P=0.034), and the combined MTHFR 1298AC/TYMS 2R/2R genotype with reduced risk (P=0.003). 18983896 2009
Entrez Id: 4548
Gene Symbol: MTR
MTR
0.100 GeneticVariation disease 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
Entrez Id: 4548
Gene Symbol: MTR
MTR
0.100 GeneticVariation disease LHGDN 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
Entrez Id: 4548
Gene Symbol: MTR
MTR
0.100 GeneticVariation disease BEFREE The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome. 18060320 2008
Entrez Id: 4548
Gene Symbol: MTR
MTR
0.100 GeneticVariation disease 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
Entrez Id: 4548
Gene Symbol: MTR
MTR
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
Entrez Id: 4548
Gene Symbol: MTR
MTR
0.100 GeneticVariation disease BEFREE The purpose of the present study was to analyse these findings among the French population and to investigate whether common polymorphisms in genes of the folate and homocysteine pathway, including the MTHFR 677C > T, MTHFR 1298A > C, the methionine synthase (MTR) 2756A > G, the cystathionine beta-synthase (CBS) 844Ins68 and the reduced folate carrier (RFC-1) 80G > A polymorphisms, contribute to the risk of trisomy 21. 16115349 2005
Entrez Id: 4548
Gene Symbol: MTR
MTR
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
Entrez Id: 4548
Gene Symbol: MTR
MTR
0.100 GeneticVariation disease LHGDN In conclusion, our results provide evidences that homocysteine and MTR genetic polymorphism are two potent risk factors for mothers to have a DS child in Sicily. 12923861 2003
Entrez Id: 4548
Gene Symbol: MTR
MTR
0.100 GeneticVariation disease BEFREE In conclusion, our results provide evidences that homocysteine and MTR genetic polymorphism are two potent risk factors for mothers to have a DS child in Sicily. 12923861 2003
Entrez Id: 4548
Gene Symbol: MTR
MTR
0.100 GeneticVariation disease 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
Entrez Id: 4548
Gene Symbol: MTR
MTR
0.100 GeneticVariation disease 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