Gene:
DHFR
dihydrofolate reductase

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 has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

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.

? = Mouse-over for quick help

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.

List of all variant annotations for DHFR

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs10072026 NC_000005.10:g.80649321T>C, NC_000005.9:g.79945140T>C, NG_023304.1:g.10661A>G, NM_000791.3:c.242+68A>G, NM_001290354.1:c.86+68A>G, NM_001290357.1:c.242+68A>G, NR_110936.1:n.684+68A>G, XM_005248455.1:c.131+68A>G, XM_005248456.1:c.86+68A>G, rs59805063
T > C
SNP
No VIP available CA VA
rs1053129 NC_000005.10:g.80626901C>A, NC_000005.9:g.79922720C>A, NG_023304.1:g.33081G>T, NM_000791.3:c.*2186G>T, NM_001290354.1:c.*2186G>T, NM_001290357.1:c.*2244G>T, NR_110936.1:n.3065G>T, XM_005248455.1:c.*2186G>T, XM_005248456.1:c.*2186G>T, rs11550956, rs1643629, rs16877939, rs3175968, rs374534748, rs3991272
C > -
C > A
SNP
No VIP available CA VA
rs1105525 NC_000005.10:g.80654689C>T, NC_000005.9:g.79950508C>T, NG_016607.1:g.5215C>T, NG_023304.1:g.5293G>A, NM_000791.3:c.-200G>A, NM_001290354.1:c.-306G>A, NM_001290357.1:c.-200G>A, NM_002439.4:c.-39C>T, NR_110936.1:n.293G>A, XM_005248455.1:c.-657G>A, XM_005248456.1:c.-306G>A, rs4382147
C > -
C > A
C > T
SNP
No VIP available No Clinical Annotations available VA
rs12517451 NC_000005.10:g.80624254C>T, NC_000005.9:g.79920073C>T, NG_023304.1:g.35728G>A, NR_125754.1:n.-1730G>A, rs57318660
C > T
SNP
No VIP available CA VA
rs1643650 NC_000005.10:g.80644324T>C, NC_000005.9:g.79940143T>C, NG_023304.1:g.15658A>G, NM_000791.3:c.242+5065A>G, NM_001290354.1:c.86+5065A>G, NM_001290357.1:c.242+5065A>G, NR_110936.1:n.684+5065A>G, XM_005248455.1:c.131+5065A>G, XM_005248456.1:c.86+5065A>G, rs59943495
T > C
SNP
No VIP available No Clinical Annotations available VA
rs1643657 NC_000005.10:g.80640598T>C, NC_000005.9:g.79936417T>C, NG_023304.1:g.19384A>G, NM_000791.3:c.243-2589A>G, NM_001290354.1:c.87-2589A>G, NM_001290357.1:c.243-2589A>G, NR_110936.1:n.685-6606A>G, XM_005248455.1:c.132-2589A>G, XM_005248456.1:c.87-2589A>G, rs11566743, rs386540277, rs59951426
T > C
SNP
No VIP available CA VA
rs1650697 NC_000005.10:g.80654962A>G, NC_000005.9:g.79950781A>G, NG_016607.1:g.5488A>G, NG_023304.1:g.5020T>C, NM_000791.3:c.-473T>C, NM_001290354.1:c.-579T>C, NM_001290357.1:c.-473T>C, NM_002439.4:c.235A>G, NP_002430.3:p.Ile79Val, NR_110936.1:n.20T>C, XM_005248455.1:c.-930T>C, XM_005248456.1:c.-579T>C, rs17352726, rs61225035
A > -
A > C
A > G
SNP
I79V
No VIP available CA VA
rs1650723 NC_000005.10:g.80626211C>T, NC_000005.9:g.79922030C>T, NG_023304.1:g.33771G>A, NM_000791.3:c.*2876G>A, NM_001290354.1:c.*2876G>A, NM_001290357.1:c.*2934G>A, NR_110936.1:n.3755G>A, XM_005248455.1:c.*2876G>A, XM_005248456.1:c.*2876G>A, rs17790092, rs386540357
C > T
SNP
No VIP available No Clinical Annotations available VA
rs34965641 NC_000005.10:g.80646557G>A, NC_000005.9:g.79942376G>A, NG_023304.1:g.13425C>T, NM_000791.3:c.242+2832C>T, NM_001290354.1:c.86+2832C>T, NM_001290357.1:c.242+2832C>T, NR_110936.1:n.684+2832C>T, XM_005248455.1:c.131+2832C>T, XM_005248456.1:c.86+2832C>T, rs386583121
G > A
SNP
No VIP available CA VA
rs408626 NC_000005.10:g.80655314T>C, NC_000005.9:g.79951133T>C, NG_016607.1:g.5840T>C, NG_023304.1:g.4668A>G, NM_000791.3:c.-825A>G, NM_001290354.1:c.-931A>G, NM_001290357.1:c.-825A>G, NM_002439.4:c.237+350T>C, NR_110936.1:n.-333A>G, XM_005248455.1:c.-1282A>G, XM_005248456.1:c.-931A>G, rs36231776, rs3776963
T > C
SNP
No VIP available CA VA
rs442767 NC_000005.10:g.80655677G>T, NC_000005.9:g.79951496G>T, NG_016607.1:g.6203G>T, NG_023304.1:g.4305C>A, NM_000791.3:c.-1188C>A, NM_001290354.1:c.-1294C>A, NM_001290357.1:c.-1188C>A, NM_002439.4:c.237+713G>T, NR_110936.1:n.-696C>A, XM_005248455.1:c.-1645C>A, XM_005248456.1:c.-1294C>A, rs36231429
G > T
SNP
No VIP available CA VA
rs70991108 NC_000005.10:g.80654344_80654345insTGGCGCGTCCCGCCCAGGT, NC_000005.9:g.79950163_79950164insTGGCGCGTCCCGCCCAGGT, NG_016607.1:g.4870_4871insTGGCGCGTCCCGCCCAGGT, NG_023304.1:g.5637_5638insACCTGGGCGGGACGCGCCA, NM_000791.3:c.86+59_86+60insACCTGGGCGGGACGCGCCA, NM_001290354.1:c.-21+59_-21+60insACCTGGGCGGGACGCGCCA, NM_001290357.1:c.86+59_86+60insACCTGGGCGGGACGCGCCA, NM_002439.4:c.-384_-383insTGGCGCGTCCCGCCCAGGT, NR_110936.1:n.578+59_578+60insACCTGGGCGGGACGCGCCA, XM_005248455.1:c.-313_-312insACCTGGGCGGGACGCGCCA, XM_005248456.1:c.-21+59_-21+60insACCTGGGCGGGACGCGCCA, rs147334155
- > TGGCGCGTCCCGCCCAGGT
indel
No VIP available No Clinical Annotations available VA
rs7387 NC_000005.10:g.80628972T>A, NC_000005.9:g.79924791T>A, NG_023304.1:g.31010A>T, NM_000791.3:c.*115A>T, NM_001290354.1:c.*115A>T, NM_001290357.1:c.*173A>T, NR_110936.1:n.994A>T, XM_005248455.1:c.*115A>T, XM_005248456.1:c.*115A>T, rs1643633, rs3202536
T > -
T > A
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA143

Details

Cytogenetic Location: chr5 : q11.2 - q13.2
GP mRNA Boundary: chr5 : 79922045 - 79950800
GP Gene Boundary: chr5 : 79919045 - 79960800
Strand: minus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
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.

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.

PharmGKB contains no links to external pathways for this gene. To report a pathway, click here.

Curated Information ?

Evidence Gene
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MSH3

Curated Information ?

Curated Information ?

Publications related to DHFR: 39

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenomics in the treatment of lung cancer: an update. Pharmacogenomics. 2015. Morales-Espinosa Daniela, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Impact of genetic variants of RFC1, DHFR and MTHFR in osteosarcoma patients treated with high-dose methotrexate. The pharmacogenomics journal. 2015. Jabeen S, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Influence of dihydrofolate reductase gene polymorphisms rs408626 (-317A>G) and rs442767 (-680C>A) on the outcome of methotrexate-based maintenance therapy in South Indian patients with acute lymphoblastic leukemia. European journal of clinical pharmacology. 2015. Kodidela Sunitha, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Cyclosporine and methotrexate-related pharmacogenomic predictors of acute graft-versus-host disease. Haematologica. 2015. Laverdière Isabelle, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pharmacogenetics of pemetrexed combination therapy in lung cancer: pathway analysis reveals novel toxicity associations. The pharmacogenomics journal. 2014. Corrigan 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
Genetic polymorphisms affect efficacy and adverse drug reactions of DMARDs in rheumatoid arthritis. Pharmacogenetics and genomics. 2014. Zhang Ling Ling, 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 childhood acute lymphoblastic leukemia. Pharmacogenomics. 2014. Lopez-Lopez Elixabet, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Polymorphisms in genes involved in the mechanism of action of methotrexate: are they associated with outcome in rheumatoid arthritis patients?. Pharmacogenomics. 2014. Salazar Juliana, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pharmacogenomic assessment of outcomes of pemetrexed-treated patients with adenocarcinoma of the lung. Yonsei medical journal. 2013. Jung Minkyu, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients. The pharmacogenomics journal. 2012. Owen S A, 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 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 No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Systems pharmacology assessment of the 5-fluorouracil pathway. Pharmacogenomics. 2011. Muhale Filipe 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
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
Changes in the gene expression profile of gastric cancer cells in response to ibuprofen: a gene pathway analysis. The pharmacogenomics journal. 2010. Bonelli 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
Functional polymorphisms and methotrexate treatment outcome in recent-onset rheumatoid arthritis. Pharmacogenomics. 2010. Kooloos Wouter M, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
DNA variants in region for noncoding interfering transcript of dihydrofolate reductase gene and outcome in childhood acute lymphoblastic leukemia. Clinical cancer research : an official journal of the American Association for Cancer Research. 2009. Al-Shakfa Fidaa, 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 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 No Clinical Annotation available VA No VIP available No VIP available
Purine biosynthetic pathway genes and methotrexate response in rheumatoid arthritis patients among north Indians. Pharmacogenetics and genomics. 2009. Sharma Shruti, 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
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 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
High orotate phosphoribosyltransferase gene expression predicts complete response to chemoradiotherapy in patients with squamous cell carcinoma of the esophagus. Oncology. 2009. Kajiwara Takeshi, 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 No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DNA variants in the dihydrofolate reductase gene and outcome in childhood ALL. Blood. 2008. Dulucq Stéphanie, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
An insertion/deletion polymorphism of the dihydrofolate reductase (DHFR) gene is associated with serum and red blood cell folate concentrations in women. Human genetics. 2008. Stanisławska-Sachadyn Anna, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
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
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
A functional 19-base pair deletion polymorphism of dihydrofolate reductase (DHFR) and risk of breast cancer in multivitamin users. The American journal of clinical nutrition. 2007. Xu Xinran, 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 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
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
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Polymorphism discovery in 51 chemotherapy pathway genes. Human molecular genetics. 2005. Freimuth Robert R, 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 pathway gene expression differs in subtypes of acute lymphoblastic leukemia and influences methotrexate pharmacodynamics. The Journal of clinical investigation. 2005. Kager Leo, 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
Efficient protection from methotrexate toxicity and selection of transduced human hematopoietic cells following gene transfer of dihydrofolate reductase mutants. Experimental hematology. 2003. Meisel Roland, 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
Novel aspects of resistance to drugs targeted to dihydrofolate reductase and thymidylate synthase. Biochimica et biophysica acta. 2002. Banerjee Debabrata, 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 folate metabolism -- a promising direction. Pharmacogenomics. 2002. Ulrich Cornelia 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
Role of antimetabolites of purine and pyrimidine nucleotide metabolism in tumor cell differentiation. Biochemical pharmacology. 1999. Hatse S, 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 MDR1 P-glycoprotein in multifactorial resistance to methotrexate. International journal of cancer. Journal international du cancer. 1996. Norris M D, et al. PubMed

LinkOuts

NCBI Gene:
1719
OMIM:
126060
UCSC Genome Browser:
NM_000791
RefSeq RNA:
NM_000791
RefSeq Protein:
NP_000782
RefSeq DNA:
NG_023304
NT_006713
UniProtKB:
B0YJ76_HUMAN (B0YJ76)
DYR_HUMAN (P00374)
Ensembl:
ENSG00000228716
GenAtlas:
DHFR
GeneCard:
DHFR
MutDB:
DHFR
ALFRED:
LO012794X
HuGE:
DHFR
Comparative Toxicogenomics Database:
1719
ModBase:
P00374
HumanCyc Gene:
HS09699
HGNC:
2861

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