|
Breast Carcinoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Our findings provide evidence for associations of breast cancer survival with folate-related SNPs in a population of Western Siberian region of Russia and the MTHFD1 (1958G>A) may have additional prognostic value especially among premenopausal patients.
|
23296054 |
2013 |
|
Carcinogenesis
|
0.010 |
PosttranslationalModification
|
phenotype |
BEFREE |
Methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) is involved in DNA methylation, and DNA methylation is related to tumorigenesis.
|
30343310 |
2018 |
|
Carcinoma of lung
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
MATERIAL AND METHODS The correlation between the expression of MTHFD1 and the clinicopathological features of patients diagnosed with lung cancer was investigated using the chi-square test.
|
30343310 |
2018 |
|
Carcinoma of lung
|
0.020 |
Biomarker
|
disease |
BEFREE |
To investigate whether such polymorphisms influence lung cancer survival, we genotyped 14 nsSNPs mapping to methylene-tetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR); DNA methyltransferase (DNMT2), methylenetetrahydrofolate dehydrogenase (MTHFD1) and methenyltetrahydrofolate synthetase (MTHFS) in 619 Caucasian women with incident disease, 465 with non-small cell (NSCLC) and 154 with small cell lung cancer (SCLC).
|
17533396 |
2007 |
|
Carcinoma, Ovarian Epithelial
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Lack of association between MTHFD1 G401A polymorphism and ovarian cancer susceptibility.
|
24287951 |
2014 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
In total, 167 children with ALL were genotyped for methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G > A, methylenetetrahydrofolate reductase (MTHFR) 677C > T and 1298A > C and thymidylate synthase (TYMS) 2R > 3R polymorphisms.
|
22074251 |
2012 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
The analysis of 201 children treated with methotrexate for childhood acute lymphoblastic leukemia (ALL) showed that patients with either the MTHFR T677A1298 haplotype or MTHFD1 A1958 variant had a lower probability of event-free survival (EFS) in univariate analysis (hazard ratio (HR)=2.2, 95% confidence interval (CI), 1.0-4.7 and 2.8, 95% CI, 1.1-7.3, respectively).
|
14647408 |
2004 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
The results suggest that MTHFD1 G1958A polymorphism might be associated with a decreased risk of ALL and other cancers.
|
23894459 |
2013 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
The genotype distribution of the MTHFD1 rs1076991 differed significantly between the ALL and control population.
|
23940529 |
2013 |
|
Choline Deficiency
|
0.010 |
GeneticVariation
|
disease |
LHGDN |
Genetic variation of folate-mediated one-carbon transfer pathway predicts susceptibility to choline deficiency in humans.
|
16236726 |
2005 |
|
Chronic Obstructive Airway Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
At the multiple logistic regression analysis adjusted for traditional cardiovascular risk factors (sex, age, hypertension, smoking habit, dyslipidaemia, diabetes) and chronic obstructive pulmonary disease (COPD), rs8003379 MTHFD1 (odds ratio (OR) 0.41, 95% confidence interval (CI) 0.26 to 0.65) and rs326118 MTRR (OR 0.47, 95% CI 0.29 to 0.77) polymorphisms resulted in independent susceptibility factor for AAA.
|
18635682 |
2008 |
|
Cleft Lip with or without Cleft Palate
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Associations were found for both CPO and CLP and MTHFD1 1958 G-->A in cases and case mothers.
|
18661527 |
2008 |
|
Cleft Palate
|
0.010 |
GeneticVariation
|
disease |
LHGDN |
The MTHFD1 gene is not involved in cleft lip with or without palate onset among the Italian population.
|
18261183 |
2008 |
|
Cleft palate with cleft lip
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Significant association of MTHFD1 1958G>A single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population.
|
25129243 |
2014 |
|
Colon Carcinoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The MTHFD1 1958AA genotype was significantly less frequent among cancer patients as compared to controls (p = 0.007) and related to 63% reduction of overall cancer risk (p = 0.003) and 75% of colon cancer risk (p = 0.006).
|
28968444 |
2017 |
|
Colon Carcinoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
For G401A, the data showed that MTHFD1 G401A polymorphism was associated with a decreased colon cancer risk under dominant model (OR = 0.89, 95% CI = 0.80-0.99, P = 0.04).
|
23894459 |
2013 |
|
Colorectal Carcinoma
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05).
|
26108676 |
2015 |
|
Colorectal Carcinoma
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80).
|
23893618 |
2013 |
|
Colorectal Carcinoma
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, modify the risk of CRC in the prospective Physicians' Health Study.
|
15122597 |
2004 |
|
Colorectal Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Murine MTHFD1-synthetase deficiency, a model for the human MTHFD1 R653Q polymorphism, decreases growth of colorectal tumors.
|
27597531 |
2017 |
|
Combined immunodeficiency
|
0.010 |
Biomarker
|
disease |
BEFREE |
Exome sequencing demonstrated MTHFD1 deficiency as a novel cause of a combined immunodeficiency.
|
27707659 |
2017 |
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.
|
21813566 |
2011 |
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.
|
21813566 |
2011 |
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
|
25633902 |
2015 |
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
|
25633902 |
2015 |