MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE In this regard, besides a strong association between the HLA-DRB1∗04 shared epitope alleles and both endothelial dysfunction, an early step in the atherosclerotic process, and clinically evident CV disease, other polymorphisms belonging to genes implicated in inflammatory and metabolic pathways, located inside and outside the HLA region, such as the 308 variant (G > A, rs1800629) of the TNFA locus, the rs1801131 polymorphism (A > C; position + 1298) of the MTHFR locus, or a deletion of 32 base pairs on the CCR5 gene, seem to be associated with the risk of CV disease in patients with RA. 22927710 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE Further study for association of MTHFR polymorphisms with MTX toxicities should be needed in larger RA population. 21773884 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE RA patients showed a higher frequency of the T allele at MTHFR C677T than patients without RA (p=0.049). 23095111 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE The aim of this study was to assess the involvement of the C677T and A1298C polymorphisms in the MTHFR gene in the toxicity of MTX in a Spanish RA population. 22044028 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 Biomarker disease CTD_human Genetic polymorphisms in metabolic and cellular transport pathway of methotrexate impact clinical outcome of methotrexate monotherapy in Japanese patients with rheumatoid arthritis. 22104130 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE The associations of the MTHFR C677T polymorphism with osteoporosis/osteopenia and femoral neck BMD suggest that these polymorphisms confer a risk of developing osteoporosis in patients with rheumatoid arthritis, a risk that may be reduced with folate and B complex supplementation. 22377704 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE Polymorphisms C677T and A1298C in the MTHFR gene in Mexican patients with rheumatoid arthritis treated with methotrexate: implication with elevation of transaminases. 20514079 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE We also assessed whether these two MTHFR gene polymorphisms may be implicated in the development of cardiovascular (CV) events and subclinical atherosclerosis manifested by the presence of endothelial dysfunction, in a series of Spanish patients with RA. 20423475 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE Meta-analysis did not show any association between the C677T and A1298C polymorphisms of MTHFR and the toxicity of methotrexate in RA in all patients or in Asian patients. 20067328 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE Therefore, we conclude that homocysteine might affect the inflammatory status of patients, and the MTHFR 677C>T SNP could be a predictive factor of hyperhomocysteinemia in patients with RA. 19283524 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE To examine the association between 677C>T and 1298A>C MTHFR polymorphisms and sulfasalazine efficacy for the treatment of RA, a total of 117 RA patients treated with sulfasalazine (1 g daily; duration of treatment 17 +/- 5 months) were analyzed. 19578646 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE We attempted to determine whether MTX use and MTHFR polymorphisms are associated with incident fracture risk in Japanese female RA patients. 19333678 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE Although a small sample study, our findings do not suggest a significant association of MTHFR/TS allele/genotype with MTX response in our ethnically distinct Indian (Asian) RA patients. 18274813 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE The results of our study suggest that 677T and 1298C alleles are independent factors associated with increased frequency of remission and the evaluation of C677C > T and A1298A> C MTHFR polymorphisms may be a useful tool to predict arechin treatment outcome in RA patients. 18195462 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease LHGDN The c.1298A>C polymorphism in the methylenetetrahydrofolate reductase gene is associated with rheumatoid arthritis susceptibility in Italian patients. 18328173 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease LHGDN We decided to run a pilot study to determine the incidence of Methylene tetrahydrofolate (MTHFR; C677T, A1298C) and Thymidylate synthase (TS; 5' UTR repeat, 3' UTR deletion) gene polymorphism in rheumatoid arthritis patients in our community (Indian Asian) and further explore its association with MTX response (efficacy, toxicity). 18274813 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE In this study, the six polymorphisms associated with rheumatoid arthritis (RA), N-acetyltransferase2 (NAT2) gene polymorphisms T341C, G590A, and G857A, methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms C677T and A1298C, and serum amyloid A1 (SAA1) gene promoter polymorphism C-13T were simultaneously detected by the electrochemical DNA chip and the loop-mediated isothermal amplification (LAMP) method, which is a novel technique for DNA amplification. 17985847 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE Frequencies of MTHFR C677T and A1298C were similar to those reported in Japanese RA patients, while frequencies of RFC-1 G80A genotypes differed from those reported in RA patients in the United States. 17965559 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE The results of our study suggest that the MTHFR 677T and 1298C alleles may be associated with an increased rate of RA remission in patients treated with MTX receiving high doses of folic acid supplementation. 18034620 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease LHGDN 677C>T and 1298A>C MTHFR polymorphisms affect methotrexate treatment outcome in rheumatoid arthritis. 18034620 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE Our findings suggest that C677T polymorphism in the MTHFR gene is not predictive of toxicity or efficacy of MTX treatment in RA patients receiving folate supplementation. 17213520 2006
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE We consecutively enrolled 385 patients with RA (355 female, 30 male) who had received MTX and identified toxicity associated with MTHFR C677T genotypes. 16758511 2006
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE Allele frequencies in the 677, 1298 and 3 additional SNPs in the MTHFR coding region in 223 (193 Caucasians and 30 African-Americans) patients with rheumatoid arthritis who previously participated in one of two prospective clinical trials were characterised, and genotypes were correlated with the efficacy and toxicity of MTX. 16439441 2006
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 AlteredExpression disease BEFREE Genetic factors are also important in the treatment of RA because the activity of enzymes relevant in the metabolism of drugs such as methotrexate and azathioprine, including methylenetetrahydrofolate reductase and thiopurine methyltransferase, are in part genetically determined. 16438485 2006
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 GeneticVariation disease BEFREE The genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) have been associated with increased toxicity of methotrexate (MTX), a folic acid antagonist that is widely used to treat cancer and immunosuppressive disorders such as rheumatoid arthritis. 16272757 2005