Gene:
MTHFR
methylenetetrahydrofolate reductase (NAD(P)H)

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB contains no drug labels with pharmacogenomic information for this . To report a drug label with PGx, click here.

Clinical Variants that meet the highest level of criteria, manually curated by PharmGKB, are shown below. Please follow the link in the "Position" column for more information about a particular variant. Each link in the "Position" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?
ARUP 5-Fluorouracil (5-FU) Toxicity and Chemotherapeutic Response, 7 Mutations : 2007228 rs1801131 , rs1801133

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

Variant?
(138)
Alternate Names / Tag SNPs ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs17367504 11862778A>G, 1572A>G, 236+160T>C, 7867510A>G, 8383T>C
A > G
Intronic
rs1801131 11854476T>G, 1286A>C, 16685A>C, 7859208T>G, A1298C, Glu429Ala, MTHFR:1298A>C
T > G
Missense
Glu429Ala
rs1801133 11856378G>A, 14783C>T, 665C>T, 677C>T, 7861110G>A, A222V, Ala222Val, C677T, MTHFR: c.677C>T, MTHFR:667C>T, p.A222V
G > A
Missense
Ala222Val
No VIP available CA VA
rs4846051 11854457G>A, 1305C>T, 16704C>T, 7859189G>A, MTHFR:1317T>C, MTHFR:Phe435PHE, Phe435=
G > A
Synonymous
Phe435Phe
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA245

Details

Cytogenetic Location: chr1 : p36.22 - p36.22
GP mRNA Boundary: chr1 : 11845787 - 11866160
GP Gene Boundary: chr1 : 11842787 - 11876160
Strand: minus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

MTHFR lies at the intersection of the pathways for methylation and DNA synthesis. It catalyzes the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the substrate for conversion of homeocysteine to methionine. Methionine is then converted to the universal methyl donor, S-adenosylmethionine (AdoMet, SAM) which is used for methylation of DNA and proteins. 5,10-methylenetetrahydrofolate is the substrate for de novo purine synthesis (DNPS).

The MTHFR gene is comprised of 11 exons with at least two splice variants, Gaughan et al, 2000 [Article:11080594]; Tran et al, 2002, [Article:12370778]. There are several documented variants in MTHFR (data are available on 65 variants at PharmGKB), with the majority of pharmacogenomic studies looking MTHFR: 677C>T and MTHFR: 1298C>A. Allele frequencies vary greatly between different racial and ethnic groups and there are over 20 haplotypes that are differentially represented in White (Caucasian), Black or African American (African American), Asian (Han Chinese-American) and Hispanic or Latino (Mexican American) populations, Martin et al, 2006, [Article:16538173].

Given the role of MTHFR in DNA synthesis, it is part of pathways that are acted on by several chemotherapeutic antineoplastic and antirheumatic drugs, such as methotrexate and 5-fluorouracil, although none act directly on the MTHFR protein, reviewed in Innocenti and Ratain, 2002 [Article:11916544] and Maring et al, 2005 [Article:16041392].

MTHFR is also of interest to the nutrigenomics community and there are many studies on the interactions between dietary folate, MTHFR variation and disease development. MTHFR: 677C>T was the first reported risk factor for Neural Tube Defects, reviewed in van der Linden et al, 2006, [Article:16672082]. There are many studies on cancer incidence and MTHFR, often with conflicting results, reviewed in Schwann and Rozen, 2001, [Article:12083967]. Due to its relationship with homocysteine, there is also relevance for cardiovascular diseases. While severe deficiencies in MTHFR result in hyperhomocysteinurea, [cardiovascular disease|PA443635]and mental retardation(OMIM: 607093), there is still some debate as to whether the common genetic variants are important risk factors for cardiovascular disease, reviewed in Lewis et al, 2005, [Article:16216822].

Data regarding the MTHFR gene, its variants and its interaction with [folic acid|PA449692]are important from the ethical, legal and social aspects of folate supplementation; the decision in the USA to supplement and in Europe not to supplement. Folic acid is also one of the proposed components of the Polypill, a combination of cardio-beneficial medications, which may prove controversial given the recent conflicts of evidence.

Note: The MTHFR gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand, therefore the alleles within our variant annotations will differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.

Citation
M. Whirl-Carrillo, E.M. McDonagh, J. M. Hebert, L. Gong, K. Sangkuhl, C.F. Thorn, R.B. Altman and T.E. Klein. "Pharmacogenomics Knowledge for Personalized Medicine" Clinical Pharmacology & Therapeutics (2012) 92(4): 414-417. Full text
History

Submitted by Caroline F. Thorn

Variant Summaries rs1801131, rs1801133
Drugs
Diseases

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Antimetabolite Pathway - Folate Cycle, Pharmacodynamics
    Model non-tissue specific cancer cell displaying candidate genes which may be involved in the pharmacodynamics of antimetabolite drugs acting on the folate cycle.
  1. Fluoropyrimidine Pathway, Pharmacodynamics
    Model non-tissue-specific cancer cell displaying genes which may be involved in the pharmacodynamics of the fluoropyrimidines, 5-fluorouracil (5-FU), capecitabine and tegafur.
  1. Methotrexate Pathway (Cancer Cell), Pharmacodynamics
    Methotrexate cellular disposition and effects.

External Pathways

Links to non-PharmGKB pathways.

  1. Metabolism of folate and pterines - (Reactome via Pathway Interaction Database)
No related genes are available

Curated Information ?

Curated Information ?

Publications related to MTHFR: 169

No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
MTHFR functional genetic variation and methotrexate treatment response in rheumatoid arthritis: a meta-analysis. Pharmacogenomics. 2014. Morgan Michael D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Influence of methylenetetrahydrofolate reductase gene polymorphisms on the outcome of pediatric patients with non-Hodgkin lymphoma treated with high-dose methotrexate. Leukemia & lymphoma. 2013. D'Angelo Velia, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Common variants in genes coding for chemotherapy metabolizing enzymes, transporters, and targets: a case-control study of contralateral breast cancer risk in the WECARE Study. Cancer causes & control : CCC. 2013. Brooks Jennifer D, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Germline genetic variations in methotrexate candidate genes are associated with pharmacokinetics, toxicity, and outcome in childhood acute lymphoblastic leukemia. Blood. 2013. Radtke Susanne, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pharmacogenetic variants in the DPYD, TYMS, CDA and MTHFR genes are clinically significant predictors of fluoropyrimidine toxicity. British journal of cancer. 2013. Loganayagam A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
The role of the MTHFR 677C>T polymorphism in methotrexate-induced liver toxicity: a meta-analysis in patients with cancer. The pharmacogenomics journal. 2013. Hagleitner M M, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pharmacogenetic analysis of adjuvant FOLFOX for Korean patients with colon cancer. Cancer chemotherapy and pharmacology. 2013. Lee Kyung-Hun, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics of disease-modifying antirheumatic drugs in rheumatoid arthritis: towards personalized medicine. Pharmacogenomics. 2013. Umićević Mirkov Maša, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
MTHFR polymorphisms and capecitabine-induced toxicity in patients with metastatic colorectal cancer. Pharmacogenetics and genomics. 2013. van Huis-Tanja Lieke H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Methotrexate pharmacogenetics in rheumatoid arthritis: a status report. Pharmacogenomics. 2013. Malik Fardina, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Loci influencing blood pressure identified using a cardiovascular gene-centric array. Human molecular genetics. 2013. Ganesh Santhi K, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic risk factors for drug-induced liver injury in rheumatoid arthritis patients using low-dose methotrexate. Pharmacogenomics. 2013. Dávila-Fajardo Cristina Lucía, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Evaluating predictive pharmacogenetic signatures of adverse events in colorectal cancer patients treated with fluoropyrimidines. PloS one. 2013. Jennings Barbara A, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pharmacogenetic polymorphisms contributing to toxicity induced by methotrexate in the southern Spanish population with rheumatoid arthritis. Omics : a journal of integrative biology. 2012. Plaza-Plaza José Cristian, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Genotypes of the MTHFR C677T and MTRR A66G genes act independently to reduce migraine disability in response to vitamin supplementation. Pharmacogenetics and genomics. 2012. Menon Saras, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
A systematic review and meta-analysis of MTHFR polymorphisms in methotrexate toxicity prediction in pediatric acute lymphoblastic leukemia. The pharmacogenomics journal. 2012. Lopez-Lopez E, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Genetic variants of thiopurine and folate metabolic pathways determine 6-MP-mediated hematological toxicity in childhood ALL. Pharmacogenomics. 2012. Dorababu Patchva, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics of antiangiogenic and antineovascular therapies of age-related macular degeneration. Pharmacogenomics. 2012. Agosta Elisa, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Pharmacogenetic implications for eight common blood pressure-associated single-nucleotide polymorphisms. Journal of hypertension. 2012. Hamrefors Viktor, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Association of the MTHFR gene with antipsychotic-induced metabolic abnormalities in patients with schizophrenia. Pharmacogenomics. 2012. Kuzman Martina Rojnic, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Methylene tetrahydrofolate reductase gene polymorphisms and their association with methotrexate toxicity: a meta-analysis. Pharmacogenetics and genomics. 2012. Spyridopoulou Kalliopi P, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Relationship between antimetabolite toxicity and pharmacogenetics in Turkish cancer patients. Asian Pacific journal of cancer prevention : APJCP. 2012. Dogan Mutlu, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
The MTHFR C677T Variant is Associated with Responsiveness to Disulfiram Treatment for Cocaine Dependency. Frontiers in psychiatry / Frontiers Research Foundation. 2012. Spellicy Catherine J, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Methylenetetrahydrofolate reductase genetic polymorphisms and toxicity to 5-FU-based chemoradiation in rectal cancer. British journal of cancer. 2011. Thomas F, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The association of polymorphisms in 5-fluorouracil metabolism genes with outcome in adjuvant treatment of colorectal cancer. Pharmacogenomics. 2011. Afzal Shoaib, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
MTHFR gene polymorphisms and outcome of methotrexate treatment in patients with rheumatoid arthritis: analysis of key polymorphisms and meta-analysis of C677T and A1298C polymorphisms. The pharmacogenomics journal. 2011. Owen S A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Mathematical modeling predicts the effect of folate deficiency and excess on cancer related biomarkers. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 2011. Neuhouser Marian L, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Methotrexate consolidation treatment according to pharmacogenetics of MTHFR ameliorates event-free survival in childhood acute lymphoblastic leukaemia. The pharmacogenomics journal. 2011. Salazar J, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
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. 2011. Cui Lian-Hua, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pediatric pharmacogenetic and pharmacogenomic studies: the current state and future perspectives. European journal of clinical pharmacology. 2011. Russo Roberta, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Identification of potential pharmacogenomic markers of clinical efficacy of 5-fluorouracil in colorectal cancer. International journal of cancer. Journal international du cancer. 2011. Nobili Stefania, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics of drug-induced birth defects: what is known so far?. Pharmacogenomics. 2011. Wilffert Bob, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Phase II trial of pemetrexed and bevacizumab in patients with recurrent or metastatic head and neck cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2011. Argiris Athanassios, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Central neurotoxicity in cancer chemotherapy: pharmacogenetic insights. Pharmacogenomics. 2011. Froklage Femke Eam, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Associations of various gene polymorphisms with toxicity in colorectal cancer patients receiving oral uracil and tegafur plus leucovorin: a prospective study. Annals of oncology : official journal of the European Society for Medical Oncology / ESMO. 2011. Tsunoda A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Convergent animal and human evidence suggests a role of PPM1A gene in response to antidepressants. Biological psychiatry. 2011. Malki Karim, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Prediction of irinotecan and 5-fluorouracil toxicity and response in patients with advanced colorectal cancer. The pharmacogenomics journal. 2011. Glimelius B, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Systematic review of pharmacoeconomic studies of pharmacogenomic tests. Pharmacogenomics. 2010. Beaulieu Mathieu, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Distribution of TYMS, MTHFR, p53 and MDR1 gene polymorphisms in patients with breast cancer treated with neoadjuvant chemotherapy. Cancer epidemiology. 2010. Henríquez-Hernández Luis Alberto, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
677TT genotype is associated with elevated risk of methotrexate (MTX) toxicity in juvenile idiopathic arthritis: treatment outcome, erythrocyte concentrations of MTX and folates, and MTHFR polymorphisms. The Journal of rheumatology. 2010. Tuková Jana, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
A phase I/II and pharmacogenomic study of pemetrexed and cisplatin in patients with unresectable, advanced gastric carcinoma. Anti-cancer drugs. 2010. Chen Jen-Shi, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Associations between the genetic polymorphisms of MTHFR and outcomes of methotrexate treatment in rheumatoid arthritis. Clinical and experimental rheumatology. 2010. Xiao Hui, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Association of genetic polymorphisms with hepatotoxicity in patients with childhood acute lymphoblastic leukemia or lymphoma. Pediatric hematology and oncology. 2010. Horinouchi Masanori, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Folate pathway enzyme gene polymorphisms and the efficacy and toxicity of methotrexate in psoriatic arthritis. The Journal of rheumatology. 2010. Chandran Vinod, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A large-scale candidate gene approach identifies SNPs in SOD2 and IL13 as predictive markers of response to preoperative chemoradiation in rectal cancer. The pharmacogenomics journal. 2010. Ho-Pun-Cheung A, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Polymorphisms within the folate pathway predict folate concentrations but are not associated with disease activity in rheumatoid arthritis patients on methotrexate. Pharmacogenetics and genomics. 2010. Stamp Lisa K, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Polymorphisms C677T and A1298C in the MTHFR gene in Mexican patients with rheumatoid arthritis treated with methotrexate: implication with elevation of transaminases. The pharmacogenomics journal. 2010. Mena J P, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pharmacogenetic assessment of toxicity and outcome in patients with metastatic colorectal cancer treated with LV5FU2, FOLFOX, and FOLFIRI: FFCD 2000-05. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2010. Boige Valérie, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Race and methotrexate pharmacogenetics in rheumatoid arthritis. The Journal of rheumatology. 2010. Ranganathan Prabha, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Tumor response is predicted by patient genetic profile in rectal cancer patients treated with neo-adjuvant chemo-radiotherapy. The pharmacogenomics journal. 2010. Cecchin E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Oxaliplatin, irinotecan and capecitabine as first-line therapy in metastatic colorectal cancer (mCRC): a dose-finding study and pharmacogenomic analysis. British journal of cancer. 2010. Zarate R, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and FOLFOX response in colorectal cancer patients. British journal of clinical pharmacology. 2010. Etienne-Grimaldi Marie-Christine, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Folate related gene polymorphisms and susceptibility to develop childhood acute lymphoblastic leukaemia. British journal of haematology. 2010. Koppen Ilan J N, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics in reproductive and perinatal medicine. Pharmacogenomics. 2010. Alfirevic Ana, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics of psoriasis. Pharmacogenomics. 2010. O'Rielly Darren D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic polymorphisms associated with 5-Fluorouracil-induced neurotoxicity. Chemotherapy. 2010. Kim Suk-Ran, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Variants in the dihydropyrimidine dehydrogenase, methylenetetrahydrofolate reductase and thymidylate synthase genes predict early toxicity of 5-fluorouracil in colorectal cancer patients. The Journal of international medical research. 2010. Kristensen M H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. American journal of obstetrics and gynecology. 2009. Martinez Carla A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MTHFR polymorphisms and 5-FU-based adjuvant chemotherapy in colorectal cancer. Annals of oncology : official journal of the European Society for Medical Oncology / ESMO. 2009. Afzal S, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Gene polymorphisms in folate metabolizing enzymes in adult acute lymphoblastic leukemia: effects on methotrexate-related toxicity and survival. Haematologica. 2009. Ongaro Alessia, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Gene-gene interactions in folate and adenosine biosynthesis pathways affect methotrexate efficacy and tolerability in rheumatoid arthritis. Pharmacogenetics and genomics. 2009. Dervieux Thierry, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Investigation of inter-individual variability of the one-carbon folate pathway: a bioinformatic and genetic review. The pharmacogenomics journal. 2009. Carr D F, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 2009. Collin Simon M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Involvement of gene polymorphisms of the folate pathway enzymes in gene expression and anticancer drug sensitivity using the NCI-60 panel as a model. European journal of cancer (Oxford, England : 1990). 2009. Charasson Virginie, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MTHFR gene polymorphisms and response to chemotherapy in colorectal cancer: a meta-analysis. Pharmacogenomics. 2009. Zintzaras Elias, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetic analyses of a phase III trial in metastatic gastroesophageal adenocarcinoma with fluorouracil and leucovorin plus either oxaliplatin or cisplatin: a study of the arbeitsgemeinschaft internistische onkologie. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2009. Goekkurt Eray, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Genetic polymorphisms in folate pathway enzymes as a possible marker for predicting the outcome of methotrexate therapy in Japanese patients with rheumatoid arthritis. Journal of clinical pharmacy and therapeutics. 2009. Hayashi H, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate. Rheumatology (Oxford, England). 2009. Lee Yvonne C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics and biomarkers in colorectal cancer. The pharmacogenomics journal. 2009. Strimpakos A S, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Predictors of survival and toxicity in patients on adjuvant therapy with 5-fluorouracil for colorectal cancer. British journal of cancer. 2009. Gusella M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MTHFR 677 C>T Polymorphism reveals functional importance for 5-methyltetrahydrofolate, not homocysteine, in regulation of vascular redox state and endothelial function in human atherosclerosis. Circulation. 2009. Antoniades Charalambos, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
C677T and A1298C MTHFR polymorphisms, a challenge for antifolate and fluoropyrimidine-based therapy personalisation. European journal of cancer (Oxford, England : 1990). 2009. De Mattia Elena, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Heterozygosity at the TPMT gene locus, augmented by mutated MTHFR gene, predisposes to 6-MP related toxicities in childhood ALL patients. Leukemia. 2009. Karas-Kuzelicki N, et al. PubMed
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Methotrexate in pediatric osteosarcoma: response and toxicity in relation to genetic polymorphisms and dihydrofolate reductase and reduced folate carrier 1 expression. The Journal of pediatrics. 2009. Patiño-García Ana, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Randomized phase II and pharmacogenetic study of pemetrexed compared with pemetrexed plus carboplatin in pretreated patients with advanced non-small-cell lung cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2009. Smit Egbert F, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Association of drug metabolism gene polymorphisms with toxicities, graft-versus-host disease and survival after HLA-identical sibling hematopoietic stem cell transplantation for patients with leukemia. Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2009. Rocha V, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Metaanalysis of methylenetetrahydrofolate reductase (MTHFR) polymorphisms affecting methotrexate toxicity. The Journal of rheumatology. 2009. Fisher Mark C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Outcomes of methotrexate therapy for psoriasis and relationship to genetic polymorphisms. The British journal of dermatology. 2009. Warren R B, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Predictive role of C677T MTHFR polymorphism in variable efficacy of photodynamic therapy for neovascular age-related macular degeneration. Pharmacogenomics. 2009. Parmeggiani Francesco, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. BMC medical genetics. 2009. Shaw Gary M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics and pharmacogenomics of anticancer agents. CA: a cancer journal for clinicians. 2009. Huang R Stephanie, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic determinants of methotrexate toxicity in rheumatoid arthritis patients: a study of polymorphisms affecting methotrexate transport and folate metabolism. European journal of clinical pharmacology. 2008. Bohanec Grabar Petra, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Polymorphisms in folate-related genes: association with side effects of high-dose methotrexate in childhood acute lymphoblastic leukemia. Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2008. Huang L, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pathway based analysis of SNPs with relevance to 5-FU therapy: relation to intratumoral mRNA expression and survival. International journal of cancer. Journal international du cancer. 2008. Nordgard Silje H, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
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. Pharmacogenetics and genomics. 2008. Maitland-van der Zee Anke-Hilse, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetic profiling in patients with advanced colorectal cancer treated with first-line FOLFIRI chemotherapy. The pharmacogenomics journal. 2008. Ruzzo A, et al. PubMed
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The influence of fluorouracil outcome parameters on tolerance and efficacy in patients with advanced colorectal cancer. The pharmacogenomics journal. 2008. Capitain O, et al. PubMed
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Influence of methylenetetrahydrofolate reductase gene polymorphisms on homocysteine concentrations after nitrous oxide anesthesia. Anesthesiology. 2008. Nagele Peter, et al. PubMed
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Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nature genetics. 2008. Allen Nicole C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The prevalence of folate-remedial MTHFR enzyme variants in humans. Proceedings of the National Academy of Sciences of the United States of America. 2008. Marini Nicholas J, et al. PubMed
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A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group. Blood. 2008. French Deborah, et al. PubMed
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Influence of MTHFR and RFC1 polymorphisms on toxicities during maintenance chemotherapy for childhood acute lymphoblastic leukemia or lymphoma. Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology. 2008. Shimasaki Noriko, et al. PubMed
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Common polymorphisms in the folate pathway predict efficacy of combination regimens containing methotrexate and sulfasalazine in early rheumatoid arthritis. The Journal of rheumatology. 2008. James Heather M, et al. PubMed
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Methotrexate (MTX) pathway gene polymorphisms and their effects on MTX toxicity in Caucasian and African American patients with rheumatoid arthritis. The Journal of rheumatology. 2008. Ranganathan Prabha, et al. PubMed
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Thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphisms and toxicity to capecitabine in advanced colorectal cancer patients. Clinical cancer research : an official journal of the American Association for Cancer Research. 2008. Sharma Rohini, et al. PubMed
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Thymidylate synthase haplotype is associated with tumor recurrence in stage II and stage III colon cancer. Pharmacogenetics and genomics. 2008. Lurje Georg, et al. PubMed
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Metabolic syndrome and insulin resistance in schizophrenia patients receiving antipsychotics genotyped for the methylenetetrahydrofolate reductase (MTHFR) 677C/T and 1298A/C variants. Schizophrenia research. 2008. Ellingrod Vicki L, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ERCC2 2251A>C genetic polymorphism was highly correlated with early relapse in high-risk stage II and stage III colorectal cancer patients: a preliminary study. BMC cancer. 2008. Huang Ming-Yii, et al. PubMed
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MTHFR polymorphisms' influence on outcome and toxicity in acute lymphoblastic leukemia patients. Leukemia research. 2007. Chiusolo Patrizia, et al. PubMed
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Predictive role of coagulation-balance gene polymorphisms in the efficacy of photodynamic therapy with verteporfin for classic choroidal neovascularization secondary to age-related macular degeneration. Pharmacogenetics and genomics. 2007. Parmeggiani Francesco, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
677C>T and 1298A>C MTHFR polymorphisms affect methotrexate treatment outcome in rheumatoid arthritis. Pharmacogenomics. 2007. Kurzawski Mateusz, et al. PubMed
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Genetic polymorphisms of folate metabolic enzymes and toxicities of high dose methotrexate in children with acute lymphoblastic leukemia. Annals of hematology. 2007. Pakakasama Samart, et al. PubMed
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Validation of the associations between single nucleotide polymorphisms or haplotypes and responses to disease-modifying antirheumatic drugs in patients with rheumatoid arthritis: a proposal for prospective pharmacogenomic study in clinical practice. Pharmacogenetics and genomics. 2007. Taniguchi Atsuo, et al. PubMed
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Ancestry and pharmacogenetics of antileukemic drug toxicity. Blood. 2007. Kishi Shinji, et al. PubMed
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Methylenetetrahydrofolate reductase C677T and A1298C gene variants in adult non-Hodgkin's lymphoma patients: association with toxicity and survival. Haematologica. 2007. Gemmati Donato, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetic profiling in patients with advanced colorectal cancer treated with first-line FOLFOX-4 chemotherapy. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2007. Ruzzo Annamaria, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Profile of polymorphisms of drug-metabolising enzymes and the risk of therapy-related leukaemia. British journal of haematology. 2007. Bolufer Pascual, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. Nature genetics. 2007. Bertram Lars, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetic study of methylenetetrahydrofolate reductase and thymidylate synthase in Japanese and assessment of ethnic and gender differences. Pharmacogenomics. 2007. Inoue Sachie, et al. PubMed
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The use of low dose methotrexate in rheumatoid arthritis - are we entering a new era of therapeutic drug monitoring and pharmacogenomics?. Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie. 2006. Stamp Lisa, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
General anesthesia and methylenetetrahydrofolate reductase deficiency. Journal of anesthesia. 2007. Shay Hamilton, et al. PubMed
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Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma. Journal of human genetics. 2007. Imanishi Hiroyuki, et al. PubMed
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Methylenetetrahydrofolate reductase haplotype tag single-nucleotide polymorphisms and risk of breast cancer. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 2006. Martin Yvette N, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genomic signatures to guide the use of chemotherapeutics. Nature medicine. 2006. Potti Anil, et al. PubMed
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Racial or ethnic differences in allele frequencies of single-nucleotide polymorphisms in the methylenetetrahydrofolate reductase gene and their influence on response to methotrexate in rheumatoid arthritis. Annals of the rheumatic diseases. 2006. Hughes L B, et al. PubMed
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Methylenetetrahydrofolate reductase and thymidylate synthase genotypes and risk of acute graft-versus-host disease following hematopoietic cell transplantation for chronic myelogenous leukemia. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation. 2006. Robien Kim, et al. PubMed
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Folate cycle gene variants and chemotherapy toxicity in pediatric patients with acute lymphoblastic leukemia. Haematologica. 2006. Costea Irina, et al. PubMed
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MTHFR 677 (C-->T) polymorphism is not relevant for prognosis or therapy-associated toxicity in pediatric NHL: results from 484 patients of multicenter trial NHL-BFM 95. Annals of hematology. 2006. Seidemann Kathrin, et al. PubMed
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Genetic variation in genes of folate metabolism and neural-tube defect risk. The Proceedings of the Nutrition Society. 2006. van der Linden Ivon J M, et al. PubMed
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Efficacy and toxicity of methotrexate in early rheumatoid arthritis are associated with single-nucleotide polymorphisms in genes coding for folate pathway enzymes. Arthritis and rheumatism. 2006. Wessels Judith A M, et al. PubMed
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Methylenetetrahydrofolate reductase and thymidylate synthase genotypes modify oral mucositis severity following hematopoietic stem cell transplantation. Bone marrow transplantation. 2006. Robien K, et al. PubMed
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Human methylenetetrahydrofolate reductase pharmacogenomics: gene resequencing and functional genomics. Pharmacogenetics and genomics. 2006. Martin Yvette N, et al. PubMed
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Reversible nitrous oxide myelopathy and a polymorphism in the gene encoding 5,10-methylenetetrahydrofolate reductase. British journal of anaesthesia. 2006. Lacassie H J, et al. PubMed
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Effects of methylenetetrahydrofolate reductase and reduced folate carrier 1 polymorphisms on high-dose methotrexate-induced toxicities in children with acute lymphoblastic leukemia or lymphoma. Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology. 2006. Shimasaki Noriko, et al. PubMed
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Meta-analysis of MTHFR 677C->T polymorphism and coronary heart disease: does totality of evidence support causal role for homocysteine and preventive potential of folate?. BMJ (Clinical research ed.). 2005. Lewis Sarah J, et al. PubMed
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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. Clinical and experimental hypertension (New York, N.Y. : 1993). 2005. Jiang Shanqun, et al. PubMed
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Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia. Blood. 2005. de Jonge Robert, et al. PubMed
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Pharmacogenetic association with adverse drug reactions to azathioprine immunosuppressive therapy following liver transplantation. Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society. 2005. Breen David P, et al. PubMed
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Pharmacogenetics of outcome in children with acute lymphoblastic leukemia. Blood. 2005. Rocha Jose Claudio C, et al. PubMed
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No evidence of association of methylenetetrahydrofolate reductase polymorphism with occurrence of second neoplasms after treatment of childhood leukemia. Leukemia & lymphoma. 2005. Jazbec Janez, et al. PubMed
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Hyperhomocysteinemia, methylenetetrahydrofolate reductase 677TT genotype, and the risk for schizophrenia: a Dutch population based case-control study. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2005. Muntjewerff Jan-Willem, et al. PubMed
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Polymorphisms of genes controlling homocysteine levels and IQ score following the treatment for childhood ALL. Pharmacogenomics. 2005. Krajinovic Maja, et al. PubMed
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Methylenetetrahydrofolate reductase polymorphisms and therapy response in pediatric acute lymphoblastic leukemia. Cancer research. 2005. Aplenc Richard, et al. PubMed
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Candidate genes for antidepressant response to selective serotonin reuptake inhibitors. Neuropsychiatric disease and treatment. 2005. Lotrich Francis E, et al. PubMed
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Methylenetetrahydrofolate reductase gene polymorphisms and response to fluorouracil-based treatment in advanced colorectal cancer patients. Pharmacogenetics. 2004. Etienne Marie-Christine, et al. PubMed
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Genetic factors influencing pyrimidine-antagonist chemotherapy. The pharmacogenomics journal. 2005. Maring J G, et al. PubMed
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Methylenetetrahydrofolate reductase genotype affects risk of relapse after hematopoietic cell transplantation for chronic myelogenous leukemia. Clinical cancer research : an official journal of the American Association for Cancer Research. 2004. Robien Kim, et al. PubMed
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Methylenetetrahydrofolate reductase (MTHFR) gene 677C>T and 1298A>C polymorphisms are associated with differential apoptosis of leukemic B cells in vitro and disease progression in chronic lymphocytic leukemia. Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2004. Nückel H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Methotrexate related adverse effects in patients with rheumatoid arthritis are associated with the A1298C polymorphism of the MTHFR gene. Annals of the rheumatic diseases. 2004. Berkun Y, et al. PubMed
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Venous thromboembolic disease in users of low-estrogen combined estrogen-progestin oral contraceptives. Contraception. 2004. Sidney Stephen, et al. PubMed
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Methylenetetrahydrofolate reductase gene polymorphisms in black South Africans and the association with preeclampsia. Acta obstetricia et gynecologica Scandinavica. 2004. Pegoraro Rosemary J, et al. PubMed
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Predictors of oral mucositis in patients receiving hematopoietic cell transplants for chronic myelogenous leukemia. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2004. Robien Kim, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Phase I trial of UFT/leucovorin and irinotecan in patients with advanced cancer. European journal of cancer (Oxford, England : 1990). 2004. Veronese M L, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Methionine synthase D919G polymorphism, folate metabolism, and colorectal adenoma risk. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 2004. Goode Ellen L, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Effect of the methylenetetrahydrofolate reductase C677T polymorphism on chemosensitivity of colon and breast cancer cells to 5-fluorouracil and methotrexate. Journal of the National Cancer Institute. 2004. Sohn Kyoung-Jin, et al. PubMed
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Cancer pharmacogenetics: polymorphisms, pathways and beyond. Nature reviews. Cancer. 2003. Ulrich Cornelia M, et al. PubMed
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Role of polymorphisms in MTHFR and MTHFD1 genes in the outcome of childhood acute lymphoblastic leukemia. The pharmacogenomics journal. 2004. Krajinovic M, et al. PubMed
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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. Thrombosis research. 2004. Jiang Shanqun, et al. PubMed
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The role of genetic factors in the development of hyperhomocysteinemia. Clinical chemistry and laboratory medicine : CCLM / FESCC. 2003. Geisel Jürgen, et al. PubMed
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Phenotypic variability of cardiovascular manifestations in Marfan Syndrome. Possible role of hyperhomocysteinemia and C677T MTHFR gene polymorphism. European heart journal. 2003. Giusti Betti, et al. PubMed
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Homocysteine, pharmacogenetics, and neurotoxicity in children with leukemia. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2003. Kishi Shinji, et al. PubMed
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Methylenetetrahydrofolate reductase polymorphism in advanced colorectal cancer: a novel genomic predictor of clinical response to fluoropyrimidine-based chemotherapy. Clinical cancer research : an official journal of the American Association for Cancer Research. 2003. Cohen Victor, et al. PubMed
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Gene-gene interaction between the cystathionine beta-synthase 31 base pair variable number of tandem repeats and the methylenetetrahydrofolate reductase 677C > T polymorphism on homocysteine levels and risk for neural tube defects. Molecular genetics and metabolism. 2003. Afman Lydia A, et al. PubMed
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Effect of methylenetetrahydrofolate reductase 677C-->T polymorphism on toxicity and homocysteine plasma level after chronic methotrexate treatment of ovarian cancer patients. International journal of cancer. Journal international du cancer. 2003. Toffoli Giuseppe, et al. PubMed
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Preponderance of methylenetetrahydrofolate reductase C677T homozygosity among leukemia patients intolerant to methotrexate. Annals of oncology : official journal of the European Society for Medical Oncology / ESMO. 2002. Chiusolo P, et al. PubMed
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A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. American journal of human genetics. 2002. Brody Lawrence C, et al. PubMed
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Thymidylate synthase: a novel genetic determinant of plasma homocysteine and folate levels. Human genetics. 2002. Trinh Binh N, et al. PubMed
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Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms. Mammalian genome : official journal of the International Mammalian Genome Society. 2002. Tran Pamela, et al. PubMed
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Polymorphisms in the thymidylate synthase and serine hydroxymethyltransferase genes and risk of adult acute lymphocytic leukemia. Blood. 2002. Skibola Christine F, et al. PubMed
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Update on pharmacogenetics in cancer chemotherapy. European journal of cancer (Oxford, England : 1990). 2002. Innocenti F, et al. PubMed
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The C677T mutation in the methylenetetrahydrofolate reductase gene: a genetic risk factor for methotrexate-related elevation of liver enzymes in rheumatoid arthritis patients. Arthritis and rheumatism. 2001. van Ede A E, et al. PubMed
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Phase I clinical and pharmacogenetic trial of irinotecan and raltitrexed administered every 21 days to patients with cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2001. Stevenson J P, et al. PubMed
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Pharmacogenetics of methotrexate: toxicity among marrow transplantation patients varies with the methylenetetrahydrofolate reductase C677T polymorphism. Blood. 2001. Ulrich C M, et al. PubMed
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Polymorphisms in the methylenetetrahydrofolate reductase gene: clinical consequences. American journal of pharmacogenomics : genomics-related research in drug development and clinical practice. 2001. Schwahn B, et al. PubMed
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The human and mouse methylenetetrahydrofolate reductase (MTHFR) genes: genomic organization, mRNA structure and linkage to the CLCN6 gene. Gene. 2000. Gaughan D J, et al. PubMed
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A common mutation in the methylenetetrahydrofolate reductase gene is a determinant of hyperhomocysteinemia in epileptic patients receiving anticonvulsants. Metabolism: clinical and experimental. 1999. Yoo J H, et al. PubMed
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MTHFR (C677T) polymorphisms and stage III colon cancer: response to therapy. Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology. 1999. Wisotzkey J D, et al. PubMed
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Folate status, homocysteine metabolism, and methylene tetrahydrofolate reductase genotype in rural South African blacks with a history of pregnancy complicated by neural tube defects. Metabolism: clinical and experimental. 1999. Ubbink J B, et al. PubMed
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A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects. QJM : monthly journal of the Association of Physicians. 1995. Whitehead A S, et al. PubMed

LinkOuts

Entrez Gene:
4524
OMIM:
119530
181500
188050
236250
601634
607093
UCSC Genome Browser:
NM_005957
RefSeq RNA:
NM_005957
RefSeq Protein:
NP_005948
RefSeq DNA:
AC_000044
AC_000133
NC_000001
NG_013351
NT_021937
NW_001838534
NW_923572
UniProtKB:
MTHR_HUMAN (P42898)
Q8IU67_HUMAN (Q8IU67)
Ensembl:
ENSG00000177000
GenAtlas:
MTHFR
GeneCard:
MTHFR
MutDB:
MTHFR
ALFRED:
LO000427N
HuGE:
MTHFR
Comparative Toxicogenomics Database:
4524
ModBase:
P42898
HumanCyc Gene:
HS11117
HGNC:
7436

Common Searches