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MTHFR Gene Record

  • Summary
  • Interactions
  • Claims
  • MTHFR 4524 Drug Resistance

    Alternate Names:

    4524
    METHYLENETETRAHYDROFOLATE REDUCTASE
    MTHFR
    607093
    7436
    ENSG00000177000
    OTTHUMG00000002277
    PA245
    P42898
    BE0002176
    3672

    Gene Info:

    Gene Biotype PROTEIN_CODING
    (5 More Sources)

    Gene Categories: Category Details

    DRUG RESISTANCE
    ENZYME

    Publications:

    Maitland-van der Zee AH et al., 2008, Interactions between the single nucleotide polymorphisms in the homocysteine pathway (MTHFR 677C>T, MTHFR 1298 A>C, and CBSins) and the efficacy of HMG-CoA reductase inhibitors in preventing cardiovascular disease in high-risk patients of hypertension: the GenHAT study., Pharmacogenet Genomics
    Schwahn B et al., 2001, Polymorphisms in the methylenetetrahydrofolate reductase gene: clinical consequences., Am J Pharmacogenomics
    Le Marchand et al., 2005, The MTHFR C677T polymorphism and colorectal cancer: the multiethnic cohort study., Cancer Epidemiol. Biomarkers Prev.
    Kao AC et al., 2014, Methylenetetrahydrofolate reductase gene variants and antipsychotic-induced weight gain and metabolic disturbances., J Psychiatr Res
    Borro M et al., 2017, Pre-treatment assay of 5-fluorouracil degradation rate (5-FUDR) to improve prediction of 5-fluorouracil toxicity in gastro-esophageal cancer., Oncotarget
    Sharma R et al., 2008, Thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphisms and toxicity to capecitabine in advanced colorectal cancer patients., Clin Cancer Res
    Capitain O et al., 2008, The influence of fluorouracil outcome parameters on tolerance and efficacy in patients with advanced colorectal cancer., Pharmacogenomics J
    Jennings BA et al., 2013, Evaluating predictive pharmacogenetic signatures of adverse events in colorectal cancer patients treated with fluoropyrimidines., PLoS One
    Yousef AM et al., 2018, The association of polymorphisms in folate-metabolizing genes with response to adjuvant chemotherapy of colorectal cancer., Cancer Chemother Pharmacol
    Roberto M et al., 2017, Evaluation of 5-fluorouracil degradation rate and Pharmacogenetic profiling to predict toxicity following adjuvant Capecitabine., Eur J Clin Pharmacol
    Schwab M et al., 2008, Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: a prospective clinical trial by the German 5-FU Toxicity Study Group., J Clin Oncol
    Kristensen MH et al., 2010, Variants in the dihydropyrimidine dehydrogenase, methylenetetrahydrofolate reductase and thymidylate synthase genes predict early toxicity of 5-fluorouracil in colorectal cancer patients., J Int Med Res
    Meulendijks D et al., 2017, Pharmacogenetic variants associated with outcome in patients with advanced gastric cancer treated with fluoropyrimidine and platinum-based triplet combinations: a pooled analysis of three prospective studies., Pharmacogenomics J
    Gusella M et al., 2009, Predictors of survival and toxicity in patients on adjuvant therapy with 5-fluorouracil for colorectal cancer., Br J Cancer
    Huang et al., 2009, The polymorphisms of TS and MTHFR predict survival of gastric cancer patients treated with fluorouracil-based adjuvant chemotherapy in Chinese population., Cancer Chemother. Pharmacol.
    Nahid NA et al., 2018, DPYD*2A and MTHFR C677T predict toxicity and efficacy, respectively, in patients on chemotherapy with 5-fluorouracil for colorectal cancer., Cancer Chemother Pharmacol
    Lee KH et al., 2013, Pharmacogenetic analysis of adjuvant FOLFOX for Korean patients with colon cancer., Cancer Chemother Pharmacol
    Henríquez-Hernández LA et al., 2010, Distribution of TYMS, MTHFR, p53 and MDR1 gene polymorphisms in patients with breast cancer treated with neoadjuvant chemotherapy., Cancer Epidemiol
    Cecchin E et al., 2015, MTHFR-1298 A>C (rs1801131) is a predictor of survival in two cohorts of stage II/III colorectal cancer patients treated with adjuvant fluoropyrimidine chemotherapy with or without oxaliplatin., Pharmacogenomics J
    Boige V et al., 2010, Pharmacogenetic assessment of toxicity and outcome in patients with metastatic colorectal cancer treated with LV5FU2, FOLFOX, and FOLFIRI: FFCD 2000-05., J Clin Oncol
    Romiti A et al., 2016, The TYMS-TSER polymorphism is associated with toxicity of low-dose capecitabine in patients with advanced gastrointestinal cancer., Anticancer Drugs
    Custodio A et al., 2014, Pharmacogenetic predictors of outcome in patients with stage II and III colon cancer treated with oxaliplatin and fluoropyrimidine-based adjuvant chemotherapy., Mol Cancer Ther
    Nikas et al., 2015, A common variant in MTHFR influences response to chemoradiotherapy and recurrence of rectal cancer., Am J Cancer Res
    Mazzuca F et al., 2016, Pre-treatment evaluation of 5-fluorouracil degradation rate: association of poor and ultra-rapid metabolism with severe toxicity in a colorectal cancer patients cohort., Oncotarget
    van Huis-Tanja LH et al., 2013, MTHFR polymorphisms and capecitabine-induced toxicity in patients with metastatic colorectal cancer., Pharmacogenet Genomics
    Chaturvedi P et al., 2015, Relationship of MTHFR and NQO1 Pharmacogenetics and Chemotherapy Clinical Outcomes in Breast Cancer Patients., Biochem Genet
    Loganayagam A et al., 2013, Pharmacogenetic variants in the DPYD, TYMS, CDA and MTHFR genes are clinically significant predictors of fluoropyrimidine toxicity., Br J Cancer
    Lauszus et al., 2001, Association of polymorphism of methylene-tetrahydro-folate-reductase with urinary albumin excretion rate in type 1 diabetes mellitus but not with preeclampsia, retinopathy, and preterm delivery., Acta Obstet Gynecol Scand
    Cui LH et al., 2011, Influence of polymorphisms in MTHFR 677 C→T, TYMS 3R→2R and MTR 2756 A→G on NSCLC risk and response to platinum-based chemotherapy in advanced NSCLC., Pharmacogenomics
    Pérez-Ramírez C et al., 2019, Pharmacogenetics of platinum-based chemotherapy: impact of DNA repair and folate metabolism gene polymorphisms on prognosis of non-small cell lung cancer patients., Pharmacogenomics J
    Chen JS et al., 2010, A phase I/II and pharmacogenomic study of pemetrexed and cisplatin in patients with unresectable, advanced gastric carcinoma., Anticancer Drugs
    Patiño-García A et al., 2009, Methotrexate in pediatric osteosarcoma: response and toxicity in relation to genetic polymorphisms and dihydrofolate reductase and reduced folate carrier 1 expression., J Pediatr
    Smit EF et al., 2009, Randomized phase II and pharmacogenetic study of pemetrexed compared with pemetrexed plus carboplatin in pretreated patients with advanced non-small-cell lung cancer., J Clin Oncol
    Corrigan A et al., 2014, Pharmacogenetics of pemetrexed combination therapy in lung cancer: pathway analysis reveals novel toxicity associations., Pharmacogenomics J
    Marcuello et al., 2006, Methylenetetrahydrofolate reductase gene polymorphisms: genomic predictors of clinical response to fluoropyrimidine-based chemotherapy?, Cancer Chemother. Pharmacol.
    Jiang S et al., 2005, A common haplotype on methylenetetrahydrofolate reductase gene modifies the effect of angiotensin-converting enzyme inhibitor on blood pressure in essential hypertension patients--a family-based association study., Clin Exp Hypertens
    Jiang S et al., 2004, The C677T polymorphism of the methylenetetrahydrofolate reductase gene is associated with the level of decrease on diastolic blood pressure in essential hypertension patients treated by angiotensin-converting enzyme inhibitor., Thromb Res
    Dean et al., 1999, Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene., Clin. Genet.
    Ubbink et al., 1999, Folate status, homocysteine metabolism, and methylene tetrahydrofolate reductase genotype in rural South African blacks with a history of pregnancy complicated by neural tube defects., Metab. Clin. Exp.
    Holmes et al., 1999, The C677T MTHFR gene mutation is not predictive of risk for recurrent fetal loss., Br. J. Haematol.
    Siva et al., 2007, The heritability of plasma homocysteine, and the influence of genetic variation in the homocysteine methylation pathway., QJM
    Tsai et al., 1999, Genetic causes of mild hyperhomocysteinemia in patients with premature occlusive coronary artery diseases., Atherosclerosis
    Larsson et al., 2000, Hyperhomocysteinemia and the MTHFR C677T mutation in central retinal vein occlusion., Acta Ophthalmol Scand
    Leopardi et al., 2006, Effects of folic acid deficiency and MTHFR C677T polymorphism on spontaneous and radiation-induced micronuclei in human lymphocytes., Mutagenesis
    Heijmans et al., Mortality risk in men is associated with a common mutation in the methylene-tetrahydrofolate reductase gene (MTHFR)., Eur. J. Hum. Genet.
    Ott et al., 2006, The thymidylate synthase tandem repeat promoter polymorphism: A predictor for tumor-related survival in neoadjuvant treated locally advanced gastric cancer., Int. J. Cancer
    Massacesi et al., 2006, Uridine diphosphate glucuronosyl transferase 1A1 promoter polymorphism predicts the risk of gastrointestinal toxicity and fatigue induced by irinotecan-based chemotherapy., Cancer
    Nakamura et al., 2002, Methylenetetrahydrofolate reductase genotype, vitamin B12, and folate influence plasma homocysteine in hemodialysis patients., Am. J. Kidney Dis.
    Erdogan et al., 2010, C677T polymorphism of the methylenetetrahydrofolate reductase gene does not affect folic acid, vitamin B12, and homocysteine serum levels in Turkish children with neural tube defects., Genet. Mol. Res.
    Byrne et al., 2004, Warfarin skin necrosis associated with protein S deficiency and a mutation in the methylenetetrahydrofolate reductase gene., Clin. Exp. Dermatol.
    Spellicy CJ et al., 2013, The MTHFR C677T Variant is Associated with Responsiveness to Disulfiram Treatment for Cocaine Dependency., Front Psychiatry
    Stocco et al., 2006, Prevalence of methylenetetrahydrofolate reductase polymorphisms in young patients with inflammatory bowel disease., Dig. Dis. Sci.
  • CYANOCOBALAMIN   MTHFR

    Interaction Score: 1.91

    Interaction Types & Directionality:
    cofactor (activating)

    Interaction Info:

    PMIDs:
    29662106 20634689 11979347 19307503 20589617


    Sources:
    PharmGKB DrugBank

  • TETRAHYDROFOLATE   MTHFR

    Interaction Score: 1.79

    Interaction Types & Directionality:
    cofactor (activating)

    Interaction Info:

    PMIDs:
    10024094 10233370 17636160 10208491 10893069 16950805 10196703 16929515


    Sources:
    DrugBank

  • CAPECITABINE   MTHFR

    Interaction Score: 1.27

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    27738344 18245544 17700593 24167597 29845393 27864592 18299612 20819423 27995989 19384296 29134491 23314736 20638924 25331073 20385995 27557140 26967565 23407049 26014925 23736036


    Sources:
    PharmGKB

  • BENAZEPRIL   MTHFR

    Interaction Score: 0.94

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    16081343 15226090


    Sources:
    PharmGKB

  • LEUCOVORIN   MTHFR

    Interaction Score: 0.94

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    18245544 17700593 29845393 27864592 20819423 29134491 25331073 20385995 27557140 24980946 23407049


    Sources:
    PharmGKB

  • OXALIPLATIN   MTHFR

    Interaction Score: 0.83

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    16187112 18245544 17700593 29845393 27864592 20819423 29134491 25331073 20385995 27557140 24980946 23407049


    Sources:
    NCI PharmGKB

  • PEMETREXED   MTHFR

    Interaction Score: 0.78

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    29662106 24732178 20634689 19307503


    Sources:
    PharmGKB

  • MERCAPTOPURINE   MTHFR

    Interaction Score: 0.62

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    16614955


    Sources:
    NCI

  • FLUOROURACIL   MTHFR

    Interaction Score: 0.54

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    27738344 18245544 12083967 17700593 24167597 29845393 27864592 18299612 20819423 27995989 19384296 18704422 29134491 23314736 20638924 25331073 20385995 27557140 24980946 26693073 26967565 23407049 26014925 23736036


    Sources:
    PharmGKB CIViC

  • CARBIDOPA   MTHFR

    Interaction Score: 0.49

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    12083967


    Sources:
    PharmGKB

  • ALBUMIN HUMAN   MTHFR

    Interaction Score: 0.29

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    11531629


    Sources:
    NCI

  • BEVACIZUMAB   MTHFR

    Interaction Score: 0.21

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    29662106 20634689 19307503


    Sources:
    PharmGKB

  • PHENYTOIN   MTHFR

    Interaction Score: 0.21

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    12083967 10563481


    Sources:
    NCI PharmGKB

  • CARBOPLATIN   MTHFR

    Interaction Score: 0.19

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    21605004 29662106 27995989 20634689 19159907 19307503


    Sources:
    PharmGKB

  • SULFASALAZINE   MTHFR

    Interaction Score: 0.15

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    12083967


    Sources:
    PharmGKB

  • PRAVASTATIN   MTHFR

    Interaction Score: 0.12

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    18622257


    Sources:
    PharmGKB

  • LEVODOPA   MTHFR

    Interaction Score: 0.12

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    12083967


    Sources:
    PharmGKB

  • WARFARIN   MTHFR

    Interaction Score: 0.12

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    14723717


    Sources:
    NCI

  • DISULFIRAM   MTHFR

    Interaction Score: 0.11

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    23335901


    Sources:
    PharmGKB

  • CISPLATIN   MTHFR

    Interaction Score: 0.1

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    21605004 29662106 27995989 20634689 19159907 19307503


    Sources:
    PharmGKB

  • CARBAMAZEPINE   MTHFR

    Interaction Score: 0.09

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    12083967


    Sources:
    PharmGKB

  • IRINOTECAN   MTHFR

    Interaction Score: 0.08

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    16456808


    Sources:
    NCI

  • OLANZAPINE   MTHFR

    Interaction Score: 0.06

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    24725652


    Sources:
    PharmGKB

  • PHENOBARBITAL   MTHFR

    Interaction Score: 0.06

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    None found


    Sources:
    PharmGKB

  • CLOZAPINE   MTHFR

    Interaction Score: 0.05

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    24725652


    Sources:
    PharmGKB

  • ALCOHOL   MTHFR

    Interaction Score: 0.03

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    15894672


    Sources:
    NCI

  • Ensembl: ENSG00000177000

    • Version: 101_38

    Alternate Names:
    MTHFR Ensembl Gene Name

    Gene Info:
    Gene Biotype PROTEIN_CODING

    Publications:

  • PharmGKB: MTHFR

    • Version: 18-August-2020

    Alternate Names:
    PA245 PharmGKB ID

    Gene Info:

    Publications:
    Maitland-van der Zee AH et al., 2008, Interactions between the single nucleotide polymorphisms in the homocysteine pathway (MTHFR 677C>T, MTHFR 1298 A>C, and CBSins) and the efficacy of HMG-CoA reductase inhibitors in preventing cardiovascular disease in high-risk patients of hypertension: the GenHAT study., Pharmacogenet Genomics
    Schwahn B et al., 2001, Polymorphisms in the methylenetetrahydrofolate reductase gene: clinical consequences., Am J Pharmacogenomics
    Spellicy CJ et al., 2013, The MTHFR C677T Variant is Associated with Responsiveness to Disulfiram Treatment for Cocaine Dependency., Front Psychiatry

  • CIViC: MTHFR

    • Version: 14-September-2020

    Alternate Names:
    4524 Entrez Gene ID
    3672 CIViC Gene ID

    Gene Info:

    Publications:
    Huang et al., 2009, The polymorphisms of TS and MTHFR predict survival of gastric cancer patients treated with fluorouracil-based adjuvant chemotherapy in Chinese population., Cancer Chemother. Pharmacol.
    Nikas et al., 2015, A common variant in MTHFR influences response to chemoradiotherapy and recurrence of rectal cancer., Am J Cancer Res

  • DrugBank: BE0002176

    • Version: 5.1.7

    Alternate Names:
    MTHFR DrugBank Gene Name
    P42898 UniProt Accession
    4524 Entrez Gene Id

    Gene Info:

    Publications:
    Nakamura et al., 2002, Methylenetetrahydrofolate reductase genotype, vitamin B12, and folate influence plasma homocysteine in hemodialysis patients., Am. J. Kidney Dis.
    Erdogan et al., 2010, C677T polymorphism of the methylenetetrahydrofolate reductase gene does not affect folic acid, vitamin B12, and homocysteine serum levels in Turkish children with neural tube defects., Genet. Mol. Res.
    Ubbink et al., 1999, Folate status, homocysteine metabolism, and methylene tetrahydrofolate reductase genotype in rural South African blacks with a history of pregnancy complicated by neural tube defects., Metab. Clin. Exp.

  • NCI: MTHFR

    • Version: 14-September-2017

    Alternate Names:

    Gene Info:

    Publications:
    Le Marchand et al., 2005, The MTHFR C677T polymorphism and colorectal cancer: the multiethnic cohort study., Cancer Epidemiol. Biomarkers Prev.
    Lauszus et al., 2001, Association of polymorphism of methylene-tetrahydro-folate-reductase with urinary albumin excretion rate in type 1 diabetes mellitus but not with preeclampsia, retinopathy, and preterm delivery., Acta Obstet Gynecol Scand
    Stocco et al., 2006, Prevalence of methylenetetrahydrofolate reductase polymorphisms in young patients with inflammatory bowel disease., Dig. Dis. Sci.

  • HumanProteinAtlas: MTHFR

    • Version: 19.3

    Alternate Names:
    ENSG00000177000 Ensembl Gene ID
    Methylenetetrahydrofolate reductase Human Protein Atlas Gene Description
    P42898 UniProt ID

    Gene Info:

    Gene Categories:
    ENZYME

    Publications:

  • Pharos: MTHFR

    • Version: 03-September-2020

    Alternate Names:
    Methylenetetrahydrofolate reductase Gene Name
    P42898 UniProt ID

    Gene Info:

    Gene Categories:
    ENZYME

    Publications:

  • Tempus: MTHFR

    • Version: 11-November-2018

    Alternate Names:
    MTHFR Gene Symbol

    Gene Info:

    Gene Categories:
    CLINICALLY ACTIONABLE

    Publications:

  • GO: MTHFR

    • Version: 05-September-2020

    Alternate Names:

    Gene Info:

    Gene Categories:
    DRUG RESISTANCE

    Publications:

Disclaimer: This resource is intended for purely research purposes. It should not be used for emergencies or medical or professional advice.

A finding of a drug-gene interaction or potentially druggable category does not necessarily indicate effectiveness (or lack thereof) of any drug or treatment regimen. A finding of no interaction or no potentially druggable category does not necessarily indicate lack of effectiveness of any drug or treatment regimen. Drug-gene interactions or potentially druggable categories are not presented in ranked order of potential or predicted efficacy.

The dgidb.org website does not provide any medical or healthcare products, services or advice, and is not for medical emergencies or urgent situations. IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY, CALL YOUR DOCTOR OR 911 IMMEDIATELY. Information contained on this website is not a substitute for a doctor's medical judgment or advice. We recommend that you discuss your specific, individual health concerns with your doctor or health care professional.

DGIdb (v4.2.0 - sha1 afd9f30b) • Last updated 2020-10-21