Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE MTHFR C677T, but not A1298C, was associated with neural tube defects (OR, 1.24; 95% CI, 1.08-1.42) and Down syndrome (OR, 1.65; 95% CI, 1.39-1.95). 30474229

2019

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE MTHFR C677T, but not A1298C, was associated with neural tube defects (OR, 1.24; 95% CI, 1.08-1.42) and Down syndrome (OR, 1.65; 95% CI, 1.39-1.95). 30474229

2019

dbSNP: rs1801394
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

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Polymorphisms in certain folate-Hcy-pathway genes (especially the T allele of MTHFR C677T), elevated Hcy and poor folate levels in mothers during pregnancy have been shown to be risk factors for Down syndrome in certain Asian populations (including the eastern region of India), while the same SNPs are not a risk factor in European populations. 26040482

2015

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE However, when gene-gene interactions between these two polymorphisms together with previous studied C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene were analyzed, the combined MTHFR 677CT/TT and MTHFD 1958AA/GA genotype was found to be significantly associated with the risk of having a Down syndrome child [odds ratio (OR) = 3.11; 95% confidence interval (95%CI) = 1.07-9.02]. 24668664

2014

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Overall analysis suggests an association of the MTHFR C677T polymorphism with maternal risk for DS. 24913031

2014

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The pooled OR was estimated under five genetic models and significant association was found between maternal MTHFR 677C>T polymorphism and Down syndrome under four genetic models except recessive model (for T vs. C, OR = 1.26, 95% CI = 1.09-1.46, p = 0.001; for TT vs. CC, OR = 1.49, 95% CI = 1.13-1.97, p = 0.008; for CT vs. CC, OR = 1.29, 95% CI = 1.10-1.51, p = 0.001; for TT+CT vs. CC, OR = 1.35, 95% CI = 1.13-1.60, p = 0.0008; for TT vs. CT+CC, OR = 0.76, 95% CI = 0.60-0.94, p = 0.01). 25265565

2014

dbSNP: rs1801394
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

dbSNP: rs1801394
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

dbSNP: rs1805087
rs1805087
MTR
0.100 GeneticVariation 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

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE However, when gene-gene interactions between these two polymorphisms together with previous studied C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene were analyzed, the combined MTHFR 677CT/TT and MTHFD 1958AA/GA genotype was found to be significantly associated with the risk of having a Down syndrome child [odds ratio (OR) = 3.11; 95% confidence interval (95%CI) = 1.07-9.02]. 24668664

2014

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE Moreover, no association between the MTHFR A1298C polymorphism and maternal risk for DS was found. 24913031

2014

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE This meta-analysis supports the idea that MTHFR C677T genotype is associated with increased risk for DS offspring. 23295071

2013

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE In conclusion, MTHFR 677C > T polymorphism is a moderate risk factor for DS for some populations, and populations located in Sub-Tropical region seem to be at greater risk. 23184006

2013

dbSNP: rs1217691063
rs1217691063
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

dbSNP: rs1801394
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

dbSNP: rs1801394
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

dbSNP: rs1805087
rs1805087
MTR
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

dbSNP: rs1805087
rs1805087
MTR
0.100 GeneticVariation BEFREE Present data do not support a role for MTR 2756A>G as independent maternal risk factor for a DS birth. 24150725

2013

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE Associations between MTHFR A1298C and the risk of having a child with DS were not found. 23295071

2013

dbSNP: rs397507444
rs397507444
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

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The frequency of MTHFR C677T allele in all DS mothers was 3.2-fold higher than in the controls (odds ratio [OR] = 3.12, 95% confidence interval [CI]: 1.303-7.677). 21198396

2011

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE The aim of this study was to test if C677T and A1298C polymorphisms are correlated to maternal risk of DS in Jordan. 21198396

2011

dbSNP: rs1217691063
rs1217691063
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

dbSNP: rs1217691063
rs1217691063
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