|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Statistical and bioinformatics analyses were performed to investigate the relationship between SNPs in MTHFD1 and susceptibility to NTDs.
|
26343515 |
2015 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In our study, an increased risk of NTD was observed for 1958G>A of MTHFD1 (AA vs. GG: OR=2.63, 95% CI=2.61-5.70; AA vs. GG+GA: OR=2.10, 95% CI=1.07-4.14; A vs. G: OR=1.62, 95% CI=1.11-2.36).
|
25524527 |
2015 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Gene variants in the folate metabolic pathway (e.g., MTHFR rs1801133 (677 C > T) and MTHFD1 rs2236225 (rs2236225" genes_norm="1788;4522">R653Q)) have been found to increase NTD risk.
|
22856873 |
2012 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We conclude that genetic variation in the MTHFD1 gene is associated with an increase in the genetically determined risk that a woman will bear a child with NTD and that the gene may be associated with decreased embryo survival.
|
12384833 |
2002 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In conclusion, the present meta-analysis provided evidence of the association between maternal MTHFD1 G1958A polymorphism and NTD susceptibility.
|
25502174 |
2015 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We have established that the MTHFD1 1958G>A polymorphism has a significant role in influencing a mother's risk of having an NTD-affected pregnancy in the Irish population.
|
16552426 |
2006 |
|
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
Our results so far provide no evidence for a major role of the methylenetetrahydrofolate-dehydrogenase (MTHFD) gene in NTD etiology.
|
9611072 |
1998 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A common variant in MTHFD1, p.Arg653Gln (c.1958G>A), may increase the risk for neural tube defects (NTD).
|
18767138 |
2009 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In summary, our results indicate that heterozygosity and homozygosity for the MTHFD1 1958G > A polymorphism are genetic determinants of NTD risk in the cases examined.
|
16315005 |
2006 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Our research provides the first evidence supporting a paternal, rather than a maternal, transmission bias of MTHFD1 G1958A variant for NTD susceptibility in the offspring.
|
26394717 |
2016 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A selected number of SBA patients was additionally tested for specific mutations in MTHFD, FRalpha, and PAX1 already shown to be related to NTD.
|
11320527 |
2001 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
MTHFD1 p.R653Q has been proposed as a risk factor for neural tube defects (NTDs), congenital heart defects (CHDs) and pregnancy losses.
|
23704330 |
2013 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
For MTHFD1 rs2236225 polymorphism, mothers having GA genotype and A allele exhibited an increased risk of NTDs in the offspring (OR = 2.600, 95%CI: 1.227-5.529; OR = 1.847, 95%CI: 1.047-3.259).
|
30867013 |
2019 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
For rs2236225 within MTHFD1, children with allele A or genotype AA had a high NTDs risk (OR=1.500, 95%CI=1.061~2.120; OR=2.862, 95%CI=1.022~8.015, respectively).
|
29392422 |
2018 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Our results demonstrated a significant correlation between the MTHFD1 G1958A polymorphism and NTDs in an overall meta-analysis.
|
24977710 |
2014 |
|
Neural Tube Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
Having previously identified a polymorphism within the cytoplasmic folate enzyme, MTHFD1, as a maternal risk factor for NTDs, we considered the more recently identified mitochondrial paralogue, MTHFD1L, as a candidate gene for NTD association.
|
19777576 |
2009 |
|
Neural Tube Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Analysis of the MTHFD1 promoter and risk of neural tube defects.
|
19130090 |
2009 |
|
Schizophrenia
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
This region contains 15 genes, including spectrin beta (SPTB), encoding a cytoskeletal protein previously associated with spherocytosis, methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), a folate metabolizing enzyme previously associated with bipoloar disorder and schizophrenia, pleckstrin homology domain-containing family G member 3 (PLEKHG3), a guanide nucleotide exchange enriched in the brain, and churchill domain containing protein 1 (CHURC1), homologs of which regulate neuronal development in model organisms.
|
21360829 |
2011 |
|
Schizophrenia
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia.
|
17417062 |
2007 |
|
Bipolar Disorder
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we examined the prevalence of 1958G>A polymorphism of MTHFD1 gene, encoding trifunctional folate enzyme 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase (MTHFD1), and 2756A>G variant of methionine synthase (MTR) gene in patients with BD (n=200), schizophrenia (n=200) and in controls (n=300).
|
17417062 |
2007 |
|
Anemia, Megaloblastic
|
0.120 |
Biomarker
|
disease |
BEFREE |
Methylenetetrahydrofolate dehydrogenase (MTHFD1) deficiency has recently been reported to cause a folate-responsive syndrome displaying a phenotype that includes megaloblastic anemia and severe combined immunodeficiency.
|
27707659 |
2017 |
|
Anemia, Megaloblastic
|
0.120 |
Biomarker
|
disease |
BEFREE |
These results provide evidence that impaired nuclear de novo dTMP biosynthesis can lead to both megaloblastic anemia and SCID in MTHFD1 deficiency.
|
25548164 |
2015 |
|
Spina Bifida
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0 for the following SNPs (heterozygous or homozygous) relative to the reference genotype: BHMT (rs3733890) OR = 1.8 (1.1-3.1), CBS (rs2851391) OR = 2.0 (1.2-3.1); CBS (rs234713) OR = 2.9 (1.3-6.7); MTHFD1 (rs2236224) OR = 1.7 (1.1-2.7); MTHFD1 (hcv11462908) OR = 0.2 (0-0.9); MTHFD2 (rs702465) OR = 0.6 (0.4-0.9); MTHFD2 (rs7571842) OR = 0.6 (0.4-0.9); MTHFR (rs1801133) OR = 2.0 (1.2-3.1); MTRR (rs162036) OR = 3.0 (1.5-5.9); MTRR (rs10380) OR = 3.4 (1.6-7.1); MTRR (rs1801394) OR = 0.7 (0.5-0.9); MTRR (rs9332) OR = 2.7 (1.3-5.3); TYMS (rs2847149) OR = 2.2 (1.4-3.5); TYMS (rs1001761) OR = 2.4 (1.5-3.8); and TYMS (rs502396) OR = 2.1 (1.3-3.3).
|
19493349 |
2009 |
|
Spina Bifida
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
In the case-control study, those with the MTHFD1 G1958A variant were associated with around twofold risk of anencephaly (p=0.01) and spina bifida (p<0.01).
|
26394717 |
2016 |
|
Severe Combined Immunodeficiency
|
0.120 |
Biomarker
|
disease |
BEFREE |
Methylenetetrahydrofolate dehydrogenase (MTHFD1) deficiency has recently been reported to cause a folate-responsive syndrome displaying a phenotype that includes megaloblastic anemia and severe combined immunodeficiency.
|
27707659 |
2017 |