Recombinant Human C-1-tetrahydrofolate synthase, cytoplasmic (MTHFD1), partial

1. MTHFR 1298CC was significantly associated with AE risk. The MTHFR haplotypes 677C-1298C/677T-1298A and 677T-1298C conferred risk in a progressive manner. MTHFD1 1958G>A was not associated with disease susceptibility. Children with the rs2236225 GA and the rs1801131 CC genotypes were at an increased risk as compared to the reference genotype of rs2236225 GG and rs1801131 PMID: 28398708
2. Our study suggests no significant genetic association of MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) polymorphisms in South Indian Pseudoexfoliation syndrome patients. PMID: 28299500
3. The AA and GA genotypes of MTHFD1 G1958A, TT and GT genotypes of eNOS G894T and the AA and GA genotypes of ACE A2350G are risk factors for congenital heart defects. PMID: 28865601
4. 2 common and functional MTHFD1 polymorphisms (rs2236225 and rs1076991) modulate the risk associations of plasma serine and glycine with acute myocardial infarction in patients with stable angina pectoris. PMID: 27872106
5. MTHFD1 1958AA genotype is linked to a significantly reduced cancer risk. The 1958GG genotype is associated to PBMCs DNA hypomethylation as compared to the A allele carriership that may exert a protective effect for cancer risk by preserving from DNA hypomethylation PMID: 28968444
6. Results propose that MTHFD1 synthetase deficiency does not contribute to tumor initiation in the normal colon, but it limits tumor growth by reducing purine pools and altering expression of genes involved in cell proliferation and inflammation. PMID: 27597531
7. B vitamin treatments modify the risk of myocardial infarction associated with a MTHFD1 polymorphism in patients with stable angina pectoris. PMID: 26803590
8. Paternal, rather than a maternal, transmission bias of MTHFD1 G1958A variant for neural tube defects susceptibility in the offspring. PMID: 26394717
9. impairments in MTHFD1 activity compromise both homocysteine remethylation and de novo thymidylate biosynthesis, and provide evidence that MTHFD1-associated disruptions in de novo thymidylate biosynthesis lead to genome instability that may underlie folate-associated immunodeficiency and birth defects PMID: 26853819
10. G1958A (MTHFD1) polymorphisms showed no association with ischemic heart disease in patients from Yucatan, Mexico PMID: 25304051
11. polymorphism of SNP loci rs1956545 and rs56811449 as well as a haplotype in MTHFD1 gene could have a role in the occurrence of neural tube defects in the Chinese population PMID: 26343515
12. MTHFD1 1958G > A is significantly associated with the susceptibility of neural tube defects in a Chinese population. PMID: 25524527
13. Data suggest impaired folate metabolism down-regulates placenta trophoblast proliferation, viability, invasive capacity, and progesterone secretion; silencing MTHFD1 gene down-regulates cell proliferation but does not alter progesterone secretion. PMID: 26299783
14. We found that the compound mutation genotypes MTHFD-G1958A, MTR-A2756G, and RFC1-G80A increased the risk of preterm birth (OR = 2.88, 95%CI = 1.08-7.72, P = 0.028). PMID: 25730024
15. the present meta-analysis provided evidence of the association between maternal MTHFD1 G1958A polymorphism and neural tube defects susceptibility. PMID: 25502174
16. We find no evidence for association of the MTHFD1 R134K and R653Q polymorphisms with migraine in our Australian case-control population PMID: 25039261
17. The MTRR c.66A>G (rs1801394) polymorphism and MTHFD1 c.1958G>A (rs2236225) are associated with increased maternal risk for Down syndrome. [Meta-analysis] PMID: 25544792
18. methylenetetrahydrofolate dehydrogenase gene variants in the cognitive function of ADHD PMID: 25079255
19. The results indicated the MTHFD1 1958G>A polymorphism to be one of the important genetic determinants of NSCLP risk in South Indian subjects PMID: 25129243
20. ACAT1, ACACA, ALDH6A1 and MTHFD1 represent novel biomarkers in adipose tissue associated with type 2 diabetes in obese individuals. PMID: 25099943
21. impact of MTHFD1 loss of function on folate-dependent purine, dTMP, and methionine biosynthesis in fibroblasts with MTHFD1 deficiency PMID: 25548164
22. methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), an enzyme that generates methylenetetrahydrofolate from formate, ATP, and NADPH, functions in the nucleus to support de novo thymidylate biosynthesis. PMID: 25213861
23. Prematurity and 1958G>A (MTHFD1)were not associated. Increases in the inflammatory marker CRP (logistic regression, p = 0.055) and BMI (chi-square, p = 0.0113) were associated with AA genotype in women with low folate. PMID: 24368157
24. The MTHFD1 G1958A polymorphism might be associated with maternal risk for neural tube defects. PMID: 24977710
25. neither MTHFD G1958A nor TC C776G polymorphisms are an independent risk factor for Down syndrome. However, the combined MTHFD/MTHFR, TC/MTHFR genotypes play a role in the risk of bearing a Down syndrome child in the Chinese population. PMID: 24668664
26. Mutated 401A allele of MTHFD1 gene is essential risk factor of fetal hypotrophy in population of Polish women. PMID: 25118499
27. Our findings demonstrated the susceptible role of the mutant-type MTHFR C677T, MTHFR A1298C, and MTHFD G1958A in recurrent miscarriage. PMID: 23685927
28. suggested that G401A polymorphism of MTHFD1 was not associated with ovarian cancer risk when using additive PMID: 24287951
29. This meta-analysis suggests that MTHFD1 G1958A polymorphism might not be a risk factor for prostate cancer PMID: 24197977
30. MTHFD1 G1958A polymorphism might be associated with a decreased risk of ALL and other cancers. Meanwhile, the MTHFD1 G401A might play a protective role in the development of colon cancer. PMID: 23894459
31. Our results among the Brazilian population did not support an association between MTHFD1 G1958A polymorphism and risk for Down synrome. PMID: 22339736
32. An important role of polymorphisms and gene-gene interactions within the folate pathway in high dose methotrexate-related toxicity in childhood acute lymphoblastic leukemia. PMID: 22074251
33. MTHFD1 1958GA or AA genotypes were associated with smoking (p = 0.04) and alcoholism (p = 0.03) and were more often found in more advanced stage tumors (p = 0.04) and in patients with a shorter survival (p = 0.03). PMID: 21537707
34. This is the first implication of chr14q23.2-23.3 in the etiology of autism and points to MTHFD1, PLEKHG3, and CHURC1 as potential candidate genes contributing to autism risk. PMID: 21360829
35. The genotype and allele frequencies of the MTR Asp919Gly, MTHFR Ala222Val, MTHFD1 Arg653Gln and MTRR Ile22Met gene variants did not display statistical differences between patients with cervical cancer and controls. PMID: 21349258
36. Mutation in Methylenetetrahydrofolate Dehydrogenase gene is associated with thrombosis. PMID: 21271780
37. Data show that a significant association with NHL was observed only for MTHFD1 G1958A. PMID: 21055808
38. c.1958 G>A polymorphism unlikely to play a major role in recurrent spontaneous abortion PMID: 20334533
39. the frequencies of MTHFD1 alleles, as well as the frequencies of MTHFD11958 genotypes (GG, GA, AA, GA+AA) do not correlate with Down syndrome pregnancies PMID: 21254748
40. Polymorphic variants of folate metabolizing genes (C677T and A1298C MTHFR, C1420T SHMT1 and G1958A MTHFD) are not associated with the risk of breast cancer in West Siberian Region of Russia PMID: 21090237
41. G1793A gene polymorphism, HHcy, folate deficiency and low vitamin B(12) concentration were associated with ulcerative colitis in central China. PMID: 20594233
42. No significant difference of allele and genotype contributions of the MTHFD1 polymorphism between Alzheimer's disease cases and controls was detected in total samples. PMID: 20217437
43. The polymorphism distribution of genes encoding MTR, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and MTHFD1 and MTHFR in patients with larynx cancer, was examined. PMID: 19649727
44. Genetic variation in the MTHFD1 gene is associated with an increase in the risk that a woman will bear a child with NTD. PMID: 12384833
45. Results conclude that women who are 'QQ' homozygote for the MTHFD1 1258G --> A (R653Q) polymorphism are almost three times more likely to develop severe abruptio placentae during their pregnancy than women who are 'RQ' or 'RR.' PMID: 15633187
46. Women who are MTHFD1 1958AA homozygous are at increased maternal risk for unexplained second trimester pregnancy loss. PMID: 16123074
47. carriers of the MTHFD1-1958A gene allele were more likely to develop choline deficiency on the low-choline diet unless treated with folic acid; premenopausal women carriers showed 15 times increased susceptibility to organ dysfunction on low-choline diet PMID: 16236726
48. Heterozygosity and homozygosity for the MTHFD1 1958G > A polymorphism are genetic determinants of neural tube defect risk. PMID: 16315005
49. MTHFR C677T gene polymorphism associated with a predisposition to increased plasma homocysteine levels could constitute a useful predictive marker for macroangiopathy in Chinese Type 2 diabetic patients. PMID: 17114913
50. Since MTHFD genes are located in 14q24 loci, our findings support the significance of chromosome 1q in etiopathogenesis of schizophrenia. PMID: 17417062

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HGNC: 7432

OMIM: 114500

KEGG: hsa:4522

STRING: 9606.ENSP00000450560

UniGene: Hs.652308