Recombinant Human Methylenetetrahydrofolate reductase (NADPH) (MTHFR)

1. The subjects with 677CC/1298AA genotype were only 3.05%. We were not found triple 677CT/1298CC and quadruple 677TT/1298CC mutation suggesting decreased viability of embryos with increased numbers of mutant alleles. PMID: 30061759
2. The polymorphism of MTHFR C677T/A1298C may not be an important indicator for the accurate detection of side effects of chemotherapy after using methotrexate. PMID: 30024839
3. We found a significant inverse correlation between MTHFR methylation levels and perceived stress scores, which remained significant after being adjusted for age, sex, and depressive symptomatology. This is the first study that reports an association between perceived stress and MTHFR methylation levels. PMID: 29595559
4. No significant difference in FVL genotype between patients and controls was observed, whereas high frequencies of PRT G20210A, MTHFR C677T and MTHFR A1298C mutations in the Hb S patients PMID: 30200836
5. MTHFR C677T genotyping may be useful for predicting methotrexate toxicity PMID: 29911750
6. High frequency of MTHFR C677T polymorphism found in arterial thrombosis patient group suggests that this polymorphism might increase the risk of arterial thrombosis in Georgian patients. PMID: 29439641
7. The frequency of MTHFR 677TT genotype may be correlated with the morbility of deep venous thrombosis. PMID: 30303041
8. Our 2.5 A resolution crystal structure of human MTHFR reveals a unique architecture, appending the well-conserved catalytic TIM-barrel to a eukaryote-only SAM-binding domain. The latter domain of novel fold provides the predominant interface for MTHFR homo-dimerization, positioning the N-terminal serine-rich phosphorylation region near the C-terminal SAM-binding domain. PMID: 29891918
9. Meta-analysis shows that air pollution level is an environmental factor interacting with increased MTHFR C677T polymorphisms, impacting the susceptibility to hypertensive disorders in pregnancy. PMID: 29438331
10. Our findings indicate that the MTHFR gene polymorphism might play a role in the etiology of patients with recurrent miscarriage (RM) or repeated implantation failure (RIF). No adverse effects of different MTHFR haplotypes on embryo development were detected. Further studies on the biological role are needed to better understand the susceptibility to pregnancy complications PMID: 29785531
11. The meta-analysis suggested that the T allele of the rs1801133 polymorphism of MTHFR is a risk factor for coronary artery disease. PMID: 30115070
12. MTHFR C677T polymorphisms were significantly associated with recurrent pregnancy loss (RPL) in Bosnian women... PMID: 29703881
13. The 1298A>C polymorphism in the MTHFR gene is not a risk factor for ischemic stroke in pediatric patients. (Meta-analysis) PMID: 29396624
14. MTHFR SNPs are associated with bone turnover level in Chinese pregnant women. Homocysteine, osteocalcin and lead contents in plasma are associated with the MTHFR gene A1298C polymorphism. PMID: 30128868
15. The results suggest that G1793A substitution might be a protective genetic factor against male infertility. PMID: 28270024
16. MTHFR 677 T may play a significant role in regard to the risk of preterm delivery, especially in the Asian population. PMID: 29315997
17. The MTHFR 677TT genotype is an independent risk factor for hyperhomocysteinemia in Tunisian rheumatoid arthritis patients. PMID: 29796841
18. Findings provide evidence for a relationship between two genes-three mutations-of the cardiovascular disease (CVD genes panel and recurrent pregnancy loss (RPL). These genotypes include MTHFR C677T homozygosity, MTHFR A1298C homozygosity, compound heterozygosity of the two MTHFR gene mutations. PMID: 29974397
19. Study indicated that MTHFR rs1801133, FGF5 rs16998073 and CSK rs1378942 were associated with increased the risk of obesity in the Chinese children. PMID: 30217759
20. Findings showed lower MTHFR mRNA expression in preeclampsia (PE) women. The MTHFR rs1537514C>G polymorphism was associated with lower PE risk and MTHFR mRNA expression. Lower expression of MTHFR mRNA was observed in women with hypermethylated promoter. PMID: 28722783
21. The interaction of the MTHFR, GSTT1 and hypertension may constitute a predictive model of risk for early onset ischemic heart disease in the population of Yucatan, Mexico PMID: 29395491
22. This study indicates that MTHFR gene polymorphisms have effect on systemic inflammation. PMID: 29396861
23. The results of the present study demonstrated that the frequency of MTHFR C677T (67%) and A1298C (77%) polymorphisms is dramatically high among deep vein thrombosis patients in Central Iranian populations. PMID: 29855758
24. Inheritance of variant alleles of A1298C and C677T polymorphisms of MTHFR may boost the risk of NHL. Presence of the variant (T) allele of C677T polymorphism was significantly associated with non-Hodgkin lymphoma risk, and the risk seemed to be more pronounced when at least one variant allele was present in each polymorphic site. PMID: 28430351
25. Findings suggested no association between MTHFR gene polymorphisms and susceptibility to hemorrhagic strokes in Moroccan patients. Further investigations should be conducted to elucidate the roles of other gene variants in the pathogenesis of this condition. PMID: 29555401
26. study describes 3 cases of severe methotrexate myelopathy associated with the MTHFR C677T polymorphism PMID: 28062724
27. MTHFR 1298 A>C polymorphism and, altered homocysteine and vitamin B12 levels might play a vital role in the precipitation of vitiligo. PMID: 29395581
28. Significant association between MTHFR C677T polymorphism and number of losses in couples with unexplained recurrent pregnancy loss. PMID: 29622028
29. The MTHFR gene C677T C/T+T/T genotypes and T allele increases the risk of Large-artery atherosclerosis and Small-artery occlusion subtypes of ischemic stroke. PMID: 29678854
30. Suggest that MTHFR 677 variant confers risk for diabetic neuropathy among Iranian patients with type 2 diabetes. PMID: 29222982
31. that in MTHFR polymorphisms, the prevalence of 677CT genotype and T allele in C667T SNP influences susceptibility to migraine with aura but not to without aura PMID: 29427165
32. MTHFR SNPs are associated with susceptibility to osteoporosis and osteoporotic vertebral compression fractures in postmenopausal women. PMID: 29534533
33. Polymorphisms of the genes MTHFR (rs1801133) and APOA5 (rs662799), as well as anemia, are independent risk factors for stroke in Mexicans, together with traditional cardiovascular risk factors such as high triglycerides and high blood pressure. PMID: 29398535
34. Serum folate and total homocysteine levels are influenced by folate intake and genetic polymorphisms in the MTHFR gene, such as C677T. (Review) PMID: 28598562
35. MTHFR polymorphism is associated with breast cancer susceptibility. PMID: 29544444
36. T-allele of genetic polymorphism MTHFR677C > T in the population of European Russia may increase the risk of developing schizophrenia and its unfavorable prognosis. PMID: 29202425
37. This study demonstrated that MTHFR polymorphism was associated with hepatocellular carcinoma (HCC) occurrence and post-transplant recurrence PMID: 29185200
38. The MTHFR C667T polymorphism is not predictive for toxicity in methotrexate-induced toxicity in pediatric osteosarcoma patients. PMID: 28592186
39. Data suggest that C-reactive-protein (CRP) concentration is weakly associated with global DNA methylation level, and this association was more clearly in individuals with the minor allele of the 5,10-methylenetetrahydrofolate reductase (MTHFR)missense SNP rs1801133 PMID: 29439678
40. The results of the meta-analysis suggested that MTHFR C677T polymorphism was associated with colorectal cancer susceptibility, especially in Asian population. PMID: 29089462
41. Genotypes of transcobalamin 2 (TCN2) rs1801198, methionine synthase (MTR) rs1805087, methionine synthase reductase (MTRR) rs1801394, and methylene tetrahydrofolate reductase (MTHFR) rs1801133 were examined in 201 children with Autism Spectrum Disorder and 200 healthy controls from the Han Chinese population. Our results showed no association of all examined SNPs with childhood ASD and its severity. PMID: 29348398
42. The MTHFR gene polymorphism could be an important genetic determinant of baseline DBP levels in Chinese essential hypertensive patients. PMID: 29436860
43. compared with wild-type genotype CC, patients with CT/TT genotypes had higher incidence of leukopenia, neutropenia, nausea, and fatigue among the non-squamous Non-Small Cell Lung Cancer patients. Therefore, MTHFR C677T polymorphism could be a predictive factor for leukopenia, neutropenia, nausea, and fatigue in non-squamous Non-Small Cell Lung Cancer patients receiving single-agent PEM treatment PMID: 29186089
44. The risk factors noted for congenital heart disease in children were presence of MTHFR C677-->T among children and their mothers and MTRR A66-->G among mothers. PMID: 28876333
45. findings suggest that the T-allele-carrying MTHFR C677T genotype or haplotype may reduce the risk of PMODs PMID: 29970526
46. Our study did not confirm an association between the MTHFR C677T gene polymorphism and the development of Metabolic Syndrome in polycystic ovary syndrome. PMID: 27321094
47. Methylene tetrahydrofolate reductase (MTHFR) C677T, 5-methyltetrahydrofolate homocysteine methyltransferase (MTR) A2756G and 5- methyltetrahydrofolate homocysteine methyltransferase reductase (MTRR) A66G were shown to be positively associatiated with homocysteine, while nonvegetarian diet, serine hydroxymethyltransferase 1 (SHMT1) C1420T and TYMS 5'-UTR 28 bp tandem repeat exhibited negative association with homocysteine. PMID: 29321350
48. MTHFR 677 gene polymorphism may be a risk factor for the development of the lichen planus, and to predispose these patients to higher risk of cardiovascular disease. PMID: 28463405
49. Treatment with low-dose aspirin, enoxaparin and folic acid was the most effective therapy in women with recurrent miscarriages who carried a C677T MTHFR mutation. PMID: 28703660
50. In ALL and NHL patients treated with methotrexate, treatment toxicities and outcome were evaluated. Multivariate analysis showed that DHFR-1610G/T (OR=0.107, p=0.018) and MTHFR677T alleles (OR=0.12, p=0.026) had a strong protective effect against hematologic toxicity, while DHFR-1610CC genotype increased this toxicity (OR=9, p=0.045). PMID: 28887233

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HGNC: 7436

OMIM: 181500

KEGG: hsa:4524

STRING: 9606.ENSP00000365775

UniGene: Hs.214142