Gene:
CYP2E1
cytochrome P450, family 2, subfamily E, polypeptide 1

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.

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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?

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 CYP2E1 variant annotations

Variant?
(142)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No VIP available VA *1 N/A N/A N/A
No VIP available No VIP available VA *1A N/A N/A N/A
No VIP available No VIP available VA *5A N/A N/A N/A
No VIP available No VIP available VA *5B N/A N/A N/A
No VIP available No VIP available VA *6 N/A N/A N/A
No VIP available No VIP available VA *7 N/A N/A N/A
No VIP available No VIP available VA *7A N/A N/A N/A
No VIP available No VIP available VA *7B N/A N/A N/A
No VIP available No Clinical Annotations available VA
rs2031920 (-1053)C>T (Rsa 1 c1>c2), -1055C>T, 135339845C>T, 3979C>T, 6573776C>T, CYP2E1(-1055)C>T, Rsa1
C > T
5' Flanking
No VIP available No Clinical Annotations available VA
rs2070672 -352A>G, 135340548A>G, 4682A>G, 6574479A>G, CYP2E1(-352)A>G
A > G
5' Flanking
No VIP available CA VA
rs2070673 -333A>T, 135340567A>T, 4701A>T, 6574498A>T, CYP2E1(-333)A>T
A > T
5' Flanking
No VIP available CA VA
rs2070676 1156-118G>C, 135351137G>C, 15271G>C, 6585068G>C
G > C
Intronic
No VIP available No Clinical Annotations available VA
rs2515641 1263C>C, 135351362T>C, 15496C>C, 6585293T>C, Phe421=
T > C
Not Available
No VIP available No Clinical Annotations available VA
rs3813867 -1295G>C, 135339605G>C, 3739G>C, 6573536G>C, CYP2E1(-1295)C>G
G > C
5' Flanking
No VIP available CA VA
rs6413432 12678T>A, 135348544T>A, 6582475T>A, 967+1143T>A, CYP2E1*6 (DraI RFLP, T7632A SNP, rs6413432)
T > A
Intronic
No VIP available No Clinical Annotations available VA
rs8192766 -1515T>G, 135339385T>G, 3519T>G, 6573316T>G, CYP2E1(-1515)G>T
T > G
5' Flanking
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 142

Overview

Alternate Names:  CYP2E
Alternate Symbols:  None
PharmGKB Accession Id: PA129

Details

Cytogenetic Location: chr10 : q26.3 - q26.3
GP mRNA Boundary: chr10 : 135340867 - 135352620
GP Gene Boundary: chr10 : 135330867 - 135355620
Strand: plus
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.

Background
CYP2E1 is a member of the cytochrome P450 family of drug metabolizing enzymes. It is constitutively expressed in the liver but makes up less than 1% of the total hepatic P450 isoforms [Article:20100563]. It metabolizes relatively few prescription drugs (approximately 2%), the most well studied being acetaminophen, the antituberculosis drug isoniazid, and the probe drug and muscle relaxant chlorzoxazone [Article:18695978]. CYP2E1 is better known for metabolism of toxins and procarcinogens such acrylamide, alcohol, benzene, N-nitrosodimethylamine, 4-nitrophenol as well as endogenous molecules such as acetone, a product of fatty acid oxidation [Article:17020953].

Polymorphism
Variation in CYP2E1 has been reported since the early 1990s [Article:1778977]. There are no known polymorphisms that result in complete inactivation suggesting that the enzyme is essential for humans, although the Cyp2e1 knockout mouse is viable [Article:17020953]. The first alleles were identified by restriction fragment length polymorphism using the Pst1, Rsa1 and Dra1 enzymes, corresponding to SNPs in the promoter and intronic regions [Articles:1979861, 1778977, 8096192]. Some older papers used non-standard identifiers, and two nomenclature systems were initially proposed, however a consensus nomenclature system for CYP2E1 variants was reached. The official nomenclature of alleles is maintained at the CYP allele nomenclature database [Article:11751452]. There are very different allele frequencies in different populations (discussed further in individual variant summaries below), with possible consequences for public health with respect to toxicological exposure [Article:18663376]. A gene duplication variant has been reported in Chinese and American individuals but its functional consequence has not been explored to date [Article:20100563]

Regulation of CYP2E1
Studies in model organisms and cell lines have shown that CYP2E1 protein levels can be induced by xenobiotics such as ethanol, pyrazole and isoniazid without increasing mRNA levels [Articles:10976571, 8354023]. The mechanisms for this are thought to be a combination of increased translational efficiency and protein stabilization [Articles:10976571, 8354023]. In contrast to the effects of xenobiotics, chronic endogenouse conditions such as diabetes, obesity and alcoholism increase CYP2E1 mRNA [Article:10976571]. CYP2E1 regulation is altered during development; the protein is absent in fetal liver during the first trimester, but increases during gestation and after birth to around 25% of adult levels [Article:17936930]. This has important implications for drug-induced toxicity during pregnancy particularly for alcohol. In infants 30 days to 1 year, CYP2E1 protein levels approach those seen in adults (36.2 +/-20 pmol/mg), and in children 1-10 years and 10-18 years old CYP2E1 protein levels are comparable to adults (43.1 +/-20.6 pmol/mg)[Article:17936930].

Humans display a wide inter-individual variation in CYP2E1 mRNA and protein expression. Biopsy samples of human livers show CYP2E1 protein concentrations ranging from less than 5 micrograms/milligram total microsomal protein to 50 micrograms/milligram total microsomal protein, with the majority of samples in the 5-15 microgram range [Article:8807659]. This is not solely due to polymorphisms in the upstream regulatory regions, (*5 and *6 were not associated in these studies), but may be due to differences in induction by xenobiotics and endogenous inducers or more likely a complex combination of both genetic and environmental factors [Articles:8807659, 11684359]. Studies using probe drugs to monitor CYP2E1 activity in vivo showed that the *1D polymorphism enhances CYP2E1 metabolic ability in obese individuals or those who had recently consumed alcohol [Article:9772223].

Luciferase promoter studies have shown that polymorphisms in the *7 haplotype, in particular the rs6413420 variant, increased CYP2E1 transcription [Articles:9918138, 22815852]. This may be due to disruption of the binding site for the transcriptional repressor Sp1 [Article:22815852]. A HNF-1 binding site in the promoter region is disrupted by the *5 -1055C>T transition (Rsa1 c1>c2, rs2031920)[Article:1778977]. In a test of asthmatic individuals, where a haplotype of five promoter variants was measured (including *5, rs3813867 and rs2031920 but not the *1D 96bp insertion), those who had the common alleles had increased theophylline metabolism, suggesting *5 variants are associated with lower activity [Article:16841220].

Another aspect to regulation of CYP2E1 is its subcellular location: CYP2E1 can be found in the endoplasmic reticulum (where most CYPs are found) but also in the mitochondria [Article:21130154]. In studies of cell lines comparing cells with CYP2E1 expressed only in mitochondria to those expressing it in both locations, the cells with mitochondrial CYP2E1 only had higher cytotoxicity to ethanol and acetaminophen [Articles:21130154, 16380384].

Association with drug-induced liver injury (DILI)

Several variants and haplotypes of CYP2E1 have been investigated with respect to DILI. The majority of PGx studies have looked at retrospective data on anti-tuberculosis (anti-TB) drugs (see individual variant pages for detailed annotations of each study). Other studies have also looked at acetaminophen-induced hepatotoxicity and alcohol-related liver injury but mostly in model organisms and not in the context of CYP2E1 variants, therefore we focus here on anti-TB drug PGx.

CYP2E1 variants and anti-TB drug-induced liver injury
CYP2E1 metabolizes the anti-TB drug isoniazid from acetylhydrazine to the toxic metabolites acetyldaizene, ketene and acetylorium ion [Article:22012226]. Several steps in the metabolism of isoniazid are also carried out by NAT2, including the step that produces acetylhydrazine and an alternative route of catabolism of acetylhydrazine, to diacetylhydrazine. Like CYP2E1, NAT2 is also polymorphic with variants that are classified as slow acetylators and others that have are associated with a fast acetylator phenotype [Articles:18713495, 21261721]. Thus, variants in NAT2 can effect how much acetylhydrazine is available and may impact the role of CYP2E1 variants. There has been a lack of consistency as to the description of CYP2E1 variants in the literature - some of this relates to different genotyping methods but also there were different uses of the star nomenclature in historical papers. Furthermore, the allelic frequencies of CYP2E1 variants and NAT2 variants vary in different ethnic groups and particular combinations may be more relevant in certain populations [Articles:18713495, 21261721]. In addition, anti-TB drugs are usually given as polytherapy, with isoniazid, rifampin, pyrazinamide and ethambutol being the most common combination [Article:16503745]. CYP2E1 is induced by isoniazid, which further complicates the relationship between gene-drug and toxicity [Article:8354023]. Lastly, the definition of DILI varies somewhat, with some studies setting a threshold of two times the upper limit of normal (ULN) aspartate aminotransferase (AST) as indicative hepatitis and others using three times ULN or a combination of AST and ALT and bilirubin or symptoms of hepatitis or liver damage [Articles:18713495, 20860460]. Overall the lack of consistent genotype descriptions, drug regimens, and phenotype descriptions, may confound the ability to see genotype-drug effects.

While there is not a clear consensus on the effects of CYP2E1 variants on risk for anti-tuberculosis drug toxicity, in the studies that have seen significant effects, it is the higher activity or more inducible variants that are associated with severity of elevated liver enzymes and risk of liver damage. This is in concordance with the theory that the hepatotoxic metabolites are formed by CYP2E1. (See individual variants for annotations.) Further studies are needed to examine how combinations of variants in NAT2, CYP2E1 and GSTM1 and GSTT1 combine to influence risk for anti-tuberculosis drug hepatotoxicity.

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

Haplotype Summaries CYP2E1 *1B, CYP2E1 *5B, CYP2E1 *5A, CYP2E1 *6, CYP2E1 *1A
Drugs
Drug Substrate (2)

Appendix

Important haplotypes with non-SNP features:

CYP2E1*1C
CYP2E1*1C is characterized by 6 repeats in the 5 prime regulatory region at Chr10: 135188828 in the 37.3 NCBI build [Article:12519999]. The frequency of *1C allele ranges from 60-100% [Article:18663376]. In a global frequency study, the authors were unable to determine the ancestral allele at this locus but this allele was the most common in all the populations tested [Article:18663376]. In silico PCR using primers C and D from Hu et al suggests that UCSC Golden Path genome reference sequence contains the CYP2E1*1C allele [Article:10491286].

Functional studies of luciferase reporter assays comparing the *1C and *1D variants showed no difference in constitutive expression but that individuals with the *1D variant showed greater in vivo induction of CYP2E1 activity by obesity and alcohol as compared to individuals with *1C [Articles:10491286, 9772223].

Functional studies of luciferase reporter assays comparing the *1C and *1D variants showed no difference in constitutive expression in hepatic cell lines or esophageal cancer cell lines. However, in HeLa cells the *1D containing construct (called A4) had significantly higher expression than the *1C containing construct (called A2) and although both were induced by the addition of ethanol, the increase was greater for *1D 10491286, 12960506. Also, individuals with the *1D variant showed greater in vivo induction of CYP2E1 activity by obesity and alcohol as compared to individuals with *1C [Article:9772223].

In a pediatric study of antituberculosis drug-induced hepatotoxicity, the homozygous insertion allele (*1D/*1D) was associated with increased risk of hepatotoxicity compared to *1C/*1C or *1D/*1C (OR= 11.0 (1.02-110)) but it was not significant as measured by allele frequency (p=0.2) [Article:16677176].

CYP2E1*1D
CYP2E1*1D is characterized by 8 repeats in the 5 prime regulatory region at Chr10: 135188828 in the 37.3 NCBI build [Article:12519999]. In a global frequency study, this was the predominant minor allele (0-40%) whereas 6 repeats (*1C) was the major allele [Article:18663376]. This is also referred to as the insertion allele for the 96-bp insertion [Article:23007992].

Functional studies of luciferase reporter assays comparing the *1C and *1D variants showed no difference in constitutive expression in hepatic cell lines or esophageal cancer cell lines. However, in HeLa cells the *1D containing construct (called A4) had significantly higher expression than the *1C containing construct (called A2) and although both were induced by the addition of ethanol, the increase was greater for *1D 10491286, 12960506. Also individuals with the *1D variant showed greater in vivo induction of CYP2E1 activity by obesity and alcohol as compared to individuals with *1C [Article:9772223].

In a pediatric study of antituberculosis drug-induced hepatotoxicity, the homozygous insertion allele (*1D/*1D) was associated with increased risk of hepatotoxicity compared to *1C/*1C or *1D/*1C (OR= 11.0 (1.02-110)) but it was not significant as measured by allele frequency (p=0.2) [Article:16677176].

Haplotype Overview

Haplotypes are derived from the Human Cytochrome P450 (CYP) Allele Nomenclature Database The Human Cytochrome P450 (CYP) Allele Nomenclature Database states that nucleotide changes listed below are based on NCBI Reference Sequence J02843.1. Note that the nucleotide positions from the Human Cytochrome P450 (CYP) Allele Nomenclature Database do not directly match the given NCBI reference sequence. For questions about nucleotide positions, please contact the Human Cytochrome P450 (CYP) Allele Nomenclature Database directly, as they are the authoritative source on cytochrome P450 nomenclature.

PharmGKB has added some alleles below (e.g. the rows for *1 and *2), inserted for star alleles with subgroups (e.g. A, B etc). These rows reflect only the defining SNP for the star allele to accommodate how the star allele is referred to in the literature.

Source: PharmGKB

All alleles in the download file are on the positive chromosomal strand. PharmGKB considers the first haplotype listed in each table as the reference haplotype for that set.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Acetaminophen Pathway, Pharmacokinetics
    Stylized diagram showing acetaminophen metabolism and transport in the liver and kidney.
  1. Caffeine Pathway, Pharmacokinetics
    Stylized liver cell showing candidate genes involved in the metabolism of caffeine.
  1. Carbamazepine Pathway, Pharmacokinetics
    Stylized liver cell depicting candidate genes involved in the pharmacokinetics of carbamazepine.
  1. Phenytoin Pathway, Pharmacokinetics
    Genes involved in the metabolism of phenytoin in the human liver cell.
  1. Theophylline Pathway, Pharmacokinetics
    Schematic representation of theophylline metabolism in human liver.
  1. Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics
    Representation of candidate genes involved in the metabolism of zidovudine and its mechanism of antiviral action.

External Pathways

Links to non-PharmGKB pathways.

  1. CYP2E1 reactions - (Reactome via Pathway Interaction Database)
  2. Cytochrome p450 - (Reactome via Pathway Interaction Database)
  3. mechanism of acetaminophen activity and toxicity - (BioCarta via Pathway Interaction Database)
  4. P450 Dehalogenation - (Reactome via Pathway Interaction Database)
  5. P450 Epoxidations - (Reactome via Pathway Interaction Database)
  6. P450 oxidation - (Reactome via Pathway Interaction Database)
  7. Simple hydroxylation - (Reactome via Pathway Interaction Database)
No related genes are available

Curated Information ?

Curated Information ?

Publications related to CYP2E1: 91

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetic insights into migraine treatment in children. Pharmacogenomics. 2014. Gentile Giovanna, 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
Development of a broad-based ADME panel for use in pharmacogenomic studies. Pharmacogenomics. 2014. Brown Andrew Mk, 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
Pregnancy and pharmacogenomics in the context of drug metabolism and response. Pharmacogenomics. 2013. Helldén Anders, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Association of N-acetyltransferase 2 and cytochrome P450 2E1 gene polymorphisms with antituberculosis drug-induced hepatotoxicity in Western India. Journal of gastroenterology and hepatology. 2013. Gupta Vinod 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
Ethanol self-administration and nicotine treatment induce brain levels of CYP2B6 and CYP2E1 in African green monkeys. Neuropharmacology. 2013. Ferguson Charmaine S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
N-acetyl transferase 2 and cytochrome P450 2E1 genes and isoniazid-induced hepatotoxicity in Brazilian patients. The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease. 2013. Santos N P 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
Cytochrome P450-mediated drug metabolism in the brain. Journal of psychiatry & neuroscience : JPN. 2012. Miksys Sharon, 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
Human genetic variation of CYP450 superfamily: analysis of functional diversity in worldwide populations. Pharmacogenomics. 2012. Polimanti Renato, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Sex, ethnicity and slow acetylator profile are the major causes of hepatotoxicity induced by antituberculosis drugs. Journal of gastroenterology and hepatology. 2012. Chamorro Julián G, 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
Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation. The pharmacogenomics journal. 2012. Martis S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CYP2E1, GSTM1 and GSTT1 genetic polymorphisms and susceptibility to antituberculosis drug-induced hepatotoxicity: a nested case-control study. Journal of clinical pharmacy and therapeutics. 2012. Tang S-W, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Genetic interaction between NAT2, GSTM1, GSTT1, CYP2E1, and environmental factors is associated with adverse reactions to anti-tuberculosis drugs. Molecular diagnosis & therapy. 2012. Costa Gustavo N O, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
NAT2 and CYP2E1 polymorphisms associated with antituberculosis drug-induced hepatotoxicity in Chinese patients. Clinical and experimental pharmacology & physiology. 2012. An Hui-Ru, 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
PharmGKB summary: phenytoin pathway. Pharmacogenetics and genomics. 2012. Thorn Caroline F, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Profiling of drug-metabolizing enzymes/transporters in CD33+ acute myeloid leukemia patients treated with Gemtuzumab-Ozogamicin and Fludarabine, Cytarabine and Idarubicin. The pharmacogenomics journal. 2012. Iacobucci I, 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
PharmGKB summary: caffeine pathway. Pharmacogenetics and genomics. 2012. Thorn Caroline F, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pharmacogenomics of cisplatin-based chemotherapy in ovarian cancer patients of different ethnic origins. Pharmacogenomics. 2012. Khrunin Andrey, 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
Independent and combined effects of ethanol self-administration and nicotine treatment on hepatic CYP2E1 in African green monkeys. Drug metabolism and disposition: the biological fate of chemicals. 2011. Ferguson C 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
Pharmacogenetic study of drug-metabolising enzyme polymorphisms on the risk of anti-tuberculosis drug-induced liver injury: a meta-analysis. PloS one. 2012. Cai Yu, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Systematic functional characterization of cytochrome P450 2E1 promoter variants in the Chinese Han population. PloS one. 2012. Huang Xunyi, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Relationship between CYP2E1 polymorphism and increase of ALT activity during therapy of patients with pulmonary tuberculosis. Bulletin of experimental biology and medicine. 2011. Kudryashov A V, et al. PubMed
Genetic polymorphisms of NAT2, CYP2E1 and GST enzymes and the occurrence of antituberculosis drug-induced hepatitis in Brazilian TB patients. Memórias do Instituto Oswaldo Cruz. 2011. Teixeira Raquel Lima de Figueiredo, 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 fresh look at the mechanism of isoniazid-induced hepatotoxicity. Clinical pharmacology and therapeutics. 2011. Metushi I G, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
NAT2, CYP2C9, CYP2C19, and CYP2E1 genetic polymorphisms in anti-TB drug-induced maculopapular eruption. European journal of clinical pharmacology. 2011. Kim Sang-Heon, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Role of polymorphic N-acetyl transferase2 and cytochrome P4502E1 gene in antituberculosis treatment-induced hepatitis. Journal of gastroenterology and hepatology. 2011. Bose Purabi Deka, 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
Breaking Barriers in the Genomics and Pharmacogenetics of Drug Addiction. Clinical pharmacology and therapeutics. 2010. Ho M K, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Association of isoniazid-metabolizing enzyme genotypes and isoniazid-induced hepatotoxicity in tuberculosis patients. In vivo (Athens, Greece). 2011. Sotsuka Takayo, 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
Pharmocoepigenetics: a new approach to predicting individual drug responses and targeting new drugs. Pharmacological reports : PR. 2011. Baer-Dubowska Wanda, et al. PubMed
Genetic variations of NAT2 and CYP2E1 and isoniazid hepatotoxicity in a diverse population. Pharmacogenomics. 2010. Leiro-Fernandez Virginia, 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
Drug-induced liver injury: past, present and future. Pharmacogenomics. 2010. Daly Ann K. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
NAT2 and CYP2E1 polymorphisms and susceptibility to first-line anti-tuberculosis drug-induced hepatitis. The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease. 2010. Lee S-W, 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
Effects of nicotine on cytochrome P450 2A6 and 2E1 activities. British journal of clinical pharmacology. 2010. Hukkanen Janne, 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 and the efficacy and toxicity of cisplatin-based chemotherapy in ovarian cancer patients. The pharmacogenomics journal. 2010. Khrunin A 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
SNPs in genes coding for ROS metabolism and signalling in association with docetaxel clearance. The pharmacogenomics journal. 2010. Edvardsen 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
Molecular genetics and epigenetics of the cytochrome P450 gene family and its relevance for cancer risk and treatment. Human genetics. 2010. Rodriguez-Antona Cristina, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Genetic polymorphisms of cytochrome P450 and glutathione S-transferase associated with antituberculosis drug-induced hepatotoxicity in Chinese tuberculosis patients. The Journal of international medical research. 2010. Wang T, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Genetic polymorphisms of drug-metabolizing enzymes and anti-TB drug-induced hepatitis. Pharmacogenomics. 2009. Kim Sang-Heon, 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
Cytochrome P(450)-dependent toxic effects of primaquine on human erythrocytes. Toxicology and applied pharmacology. 2009. Ganesan Shobana, 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
Drug-induced liver injury: insights from genetic studies. Pharmacogenomics. 2009. Andrade Raúl J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Genetic variations of NAT2 and CYP2E1 and isoniazid hepatotoxicity in a diverse population. Pharmacogenomics. 2009. Yamada So, 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
Epigenetic and microRNA-dependent control of cytochrome P450 expression: a gap between DNA and protein. Pharmacogenomics. 2009. Gomez Alvin, 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
Polymorphic drug metabolism in anaesthesia. Current drug metabolism. 2009. Restrepo Juan G, 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 DNA sequence variations of cytochrome P450 genes in the Han Chinese population. Pharmacogenomics. 2009. Wang Hui-Hung, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Coffee consumption, genetic susceptibility and bladder cancer risk. Cancer causes & control : CCC. 2009. Villanueva Cristina 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
Functional pharmacogenetics/genomics of human cytochromes P450 involved in drug biotransformation. Analytical and bioanalytical chemistry. 2008. Zanger Ulrich 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
Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene. The pharmacogenomics journal. 2008. Lee M-Y, 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
Pharmacokinetics/genotype associations for major cytochrome P450 enzymes in native and first- and third-generation Japanese populations: comparison with Korean, Chinese, and Caucasian populations. Clinical pharmacology and therapeutics. 2008. Myrand S P, et al. PubMed
Drug-metabolising enzyme polymorphisms and predisposition to anti-tuberculosis drug-induced liver injury: a meta-analysis. The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease. 2008. Sun 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 relative contribution of human cytochrome P450 isoforms to the four caffeine oxidation pathways: an in vitro comparative study with cDNA-expressed P450s including CYP2C isoforms. Biochemical pharmacology. 2008. Kot Marta, 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 ontogeny of drug metabolism enzymes and implications for adverse drug events. Pharmacology & therapeutics. 2008. Hines Ronald N. PubMed
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Effects of N-acetyltransferase 2 (NAT2), CYP2E1 and Glutathione-S-transferase (GST) genotypes on the serum concentrations of isoniazid and metabolites in tuberculosis patients. The Journal of toxicological sciences. 2008. Fukino Katsumi, 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
Pharmacogenomics of anti-TB drugs-related hepatotoxicity. Pharmacogenomics. 2008. Roy Puspita Das, et al. PubMed
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The environmental genome project: reference polymorphisms for drug metabolism genes and genome-wide association studies. Drug metabolism reviews. 2008. Rieder Mark 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
Complicated pain management in a CYP450 2D6 poor metabolizer. Pain practice : the official journal of World Institute of Pain. 2007. Foster Adriana, 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 of NAT2 and CYP2E1 associated with antituberculosis drug-induced hepatotoxicity in Korean patients with pulmonary tuberculosis. Tuberculosis (Edinburgh, Scotland). 2007. Cho Hyun-Jung, 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 and benzene metabolism in humans exposed to a wide range of air concentrations. Pharmacogenetics and genomics. 2007. Kim Sungkyoon, 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
Disposition of acetaminophen at 4, 6, and 8 g/day for 3 days in healthy young adults. Clinical pharmacology and therapeutics. 2007. Gelotte C K, et al. PubMed
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Profile of polymorphisms of drug-metabolising enzymes and the risk of therapy-related leukaemia. British journal of haematology. 2007. Bolufer Pascual, et al. PubMed
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Associations between CYP2E1 promoter polymorphisms and plasma 1,3-dimethyluric acid/theophylline ratios. European journal of clinical pharmacology. 2006. Yoon Yeomin, et al. PubMed
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CYP2E1 genotype and isoniazid-induced hepatotoxicity in patients treated for latent tuberculosis. European journal of clinical pharmacology. 2006. Vuilleumier Nicolas, 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
Geldanamycin, an inhibitor of Hsp90, potentiates cytochrome P4502E1-mediated toxicity in HepG2 cells. The Journal of pharmacology and experimental therapeutics. 2006. Dey Aparajita, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Predisposition of antituberculosis drug induced hepatotoxicity by cytochrome P450 2E1 genotype and haplotype in pediatric patients. Journal of gastroenterology and hepatology. 2006. Roy Bidyut, 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
Cisplatin-induced hepatotoxicity is enhanced by elevated expression of cytochrome P450 2E1. Toxicological sciences : an official journal of the Society of Toxicology. 2006. Lu Yongke, 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
Genotyping for cytochrome P450 polymorphisms. Methods in molecular biology (Clifton, N.J.). 2006. Daly Ann K, et al. PubMed
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Cytochrome P450s and other enzymes in drug metabolism and toxicity. The AAPS journal. 2006. Guengerich F Peter. PubMed
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Transcriptional activity of the tandem repeat polymorphism in the 5'-flanking region of the human CYP2E1 gene. Alcoholism, clinical and experimental research. 2003. Nomura Fumio, et al. PubMed
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CYP2E1*1D regulatory polymorphism: association with alcohol and nicotine dependence. Pharmacogenetics. 2003. Howard Lisa A, et al. PubMed
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Effects of prototypical microsomal enzyme inducers on cytochrome P450 expression in cultured human hepatocytes. Drug metabolism and disposition: the biological fate of chemicals. 2003. Madan Ajay, et al. PubMed
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Cytochrome P450 2E1 genotype and the susceptibility to antituberculosis drug-induced hepatitis. Hepatology (Baltimore, Md.). 2003. Huang Yi-Shin, et al. PubMed
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Human extrahepatic cytochromes P450: function in xenobiotic metabolism and tissue-selective chemical toxicity in the respiratory and gastrointestinal tracts. Annual review of pharmacology and toxicology. 2003. Ding Xinxin, et al. PubMed
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Effects of the ADH3, CYP2E1, and GSTP1 genetic polymorphisms on their expressions in Caucasian lung tissue. Lung cancer (Amsterdam, Netherlands). 2002. Yang Mihi, et al. PubMed
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Nuclear pregnane x receptor and constitutive androstane receptor regulate overlapping but distinct sets of genes involved in xenobiotic detoxification. Molecular pharmacology. 2002. Maglich Jodi M, et al. PubMed
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Triethylenethiophosphoramide is a specific inhibitor of cytochrome P450 2B6: implications for cyclophosphamide metabolism. Drug metabolism and disposition: the biological fate of chemicals. 2002. Rae James M, et al. PubMed
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In vitro evaluation of valproic acid as an inhibitor of human cytochrome P450 isoforms: preferential inhibition of cytochrome P450 2C9 (CYP2C9). British journal of clinical pharmacology. 2001. Wen X, et al. PubMed
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Pharmacogenomics: the inherited basis for interindividual differences in drug response. Annual review of genomics and human genetics. 2001. Evans W E, et al. PubMed
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Equally potent inhibitors of cholesterol synthesis in human hepatocytes have distinguishable effects on different cytochrome P450 enzymes. Biopharmaceutics & drug disposition. 2000. Cohen L H, et al. PubMed
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Roles of CYP2A6 and CYP2B6 in nicotine C-oxidation by human liver microsomes. Archives of toxicology. 1999. Yamazaki H, et al. PubMed
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Detection and characterization of novel polymorphisms in the CYP2E1 gene. Pharmacogenetics. 1998. Fairbrother K S, et al. PubMed
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The RsaI polymorphism of CYP2E1 and susceptibility to alcoholic liver disease in Caucasians: effect on age of presentation and dependence on alcohol dehydrogenase genotype. Pharmacogenetics. 1998. Grove J, et al. PubMed
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Inhibition of human hepatic cytochrome P4502E1 by azole antifungals, CNS-active drugs and non-steroidal anti-inflammatory agents. Xenobiotica; the fate of foreign compounds in biological systems. 1998. Tassaneeyakul W, 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 of alcohol-metabolizing genes affects drinking behavior and alcoholic liver disease in Japanese men. Alcoholism, clinical and experimental research. 1997. Tanaka F, et al. PubMed
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Cytochrome P-4502E1: its physiological and pathological role. Physiological reviews. 1997. Lieber C S. PubMed
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Human cytochrome P450 2E1 (CYP2E1): from genotype to phenotype. Pharmacogenetics. 1996. Carrière V, et al. PubMed
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Acetaminophen metabolism in patients with different cytochrome P-4502E1 genotypes. Alcoholism, clinical and experimental research. 1996. Ueshima Y, et al. PubMed
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Human cytochromes P4501A1 and P4501A2: R-warfarin metabolism as a probe. Drug metabolism and disposition: the biological fate of chemicals. 1995. Zhang Z, et al. PubMed
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Interindividual variations in human liver cytochrome P-450 enzymes involved in the oxidation of drugs, carcinogens and toxic chemicals: studies with liver microsomes of 30 Japanese and 30 Caucasians. The Journal of pharmacology and experimental therapeutics. 1994. Shimada T, et al. PubMed
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O-demethylation of epipodophyllotoxins is catalyzed by human cytochrome P450 3A4. Molecular pharmacology. 1994. Relling M V, et al. PubMed
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The use of caffeine for enzyme assays: a critical appraisal. Clinical pharmacology and therapeutics. 1993. Kalow W, et al. PubMed
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Biotransformation of caffeine, paraxanthine, theobromine and theophylline by cDNA-expressed human CYP1A2 and CYP2E1. Pharmacogenetics. 1992. Gu L, et al. PubMed
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Genetic polymorphisms in the 5'-flanking region change transcriptional regulation of the human cytochrome P450IIE1 gene. Journal of biochemistry. 1991. Hayashi S, et al. PubMed
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PstI and RsaI RFLPs in complete linkage disequilibrium at the CYP2E gene. Nucleic acids research. 1990. Watanabe J, et al. PubMed

LinkOuts

Entrez Gene:
1571
OMIM:
124040
UCSC Genome Browser:
NM_000773
RefSeq RNA:
NM_000773
RefSeq Protein:
NP_000764
RefSeq DNA:
AC_000053
AC_000142
NC_000010
NG_008383
NT_008818
NW_001838014
NW_924907
HuGE:
CYP2E1
Comparative Toxicogenomics Database:
1571
ModBase:
P05181
HumanCyc Gene:
HS05414
HGNC:
2631

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