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Volumn 102, Issue 4, 2017, Pages 688-700

Worldwide Distribution of Cytochrome P450 Alleles: A Meta-analysis of Population-scale Sequencing Projects

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450; CYTOCHROME P450 2A6; CYTOCHROME P450 2B6; CYTOCHROME P450 2C19; CYTOCHROME P450 2C8; CYTOCHROME P450 2C9; CYTOCHROME P450 2D6; CYTOCHROME P450 3A4; CYTOCHROME P450 3A5; TRANSCRIPTION FACTOR GATA 4;

EID: 85019668677     PISSN: 00099236     EISSN: 15326535     Source Type: Journal    
DOI: 10.1002/cpt.690     Document Type: Article
Times cited : (448)

References (50)
  • 1
    • 84992530215 scopus 로고    scopus 로고
    • The importance of patient-specific factors for hepatic drug response and toxicity
    • Lauschke, V.M. & Ingelman–Sundberg, M. The importance of patient-specific factors for hepatic drug response and toxicity. Int. J. Mol. Sci. 17, E1714 (2016).
    • (2016) Int. J. Mol. Sci. , vol.17
    • Lauschke, V.M.1    Ingelman–Sundberg, M.2
  • 3
    • 0030935086 scopus 로고    scopus 로고
    • Use of in vitro and in vivo data to estimate the likelihood of metabolic pharmacokinetic interactions
    • Bertz, R.J. & Granneman, G.R. Use of in vitro and in vivo data to estimate the likelihood of metabolic pharmacokinetic interactions. Clin. Pharmacokinet. 32, 210–258 (1997).
    • (1997) Clin. Pharmacokinet. , vol.32 , pp. 210-258
    • Bertz, R.J.1    Granneman, G.R.2
  • 4
    • 0033569516 scopus 로고    scopus 로고
    • Pharmacogenomics: translating functional genomics into rational therapeutics
    • Evans, W.E. & Relling, M.V. Pharmacogenomics: translating functional genomics into rational therapeutics. Science 286, 487–491 (1999).
    • (1999) Science , vol.286 , pp. 487-491
    • Evans, W.E.1    Relling, M.V.2
  • 5
    • 0035861049 scopus 로고    scopus 로고
    • Potential role of pharmacogenomics in reducing adverse drug reactions: a systematic review
    • Phillips, K.A., Veenstra, D.L., Oren, E., Lee, J.K. & Sadee, W. Potential role of pharmacogenomics in reducing adverse drug reactions: a systematic review. JAMA 286, 2270–2279 (2001).
    • (2001) JAMA , vol.286 , pp. 2270-2279
    • Phillips, K.A.1    Veenstra, D.L.2    Oren, E.3    Lee, J.K.4    Sadee, W.5
  • 7
    • 84976503094 scopus 로고    scopus 로고
    • Requirements for comprehensive pharmacogenetic genotyping platforms
    • Lauschke, V.M. & Ingelman–Sundberg, M. Requirements for comprehensive pharmacogenetic genotyping platforms. Pharmacogenomics 17, 917–924 (2016).
    • (2016) Pharmacogenomics , vol.17 , pp. 917-924
    • Lauschke, V.M.1    Ingelman–Sundberg, M.2
  • 8
    • 84928209346 scopus 로고    scopus 로고
    • Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    • Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424 (2015).
    • (2015) Genet. Med. , vol.17 , pp. 405-424
    • Richards, S.1
  • 9
    • 85027954420 scopus 로고    scopus 로고
    • The human cytochrome P450 (CYP) allele nomenclature website: a peer-reviewed database of CYP variants and their associated effects
    • Sim, S.C. & Ingelman–Sundberg, M. The human cytochrome P450 (CYP) allele nomenclature website: a peer-reviewed database of CYP variants and their associated effects. Hum. Genomics 4, 278–281 (2010).
    • (2010) Hum. Genomics , vol.4 , pp. 278-281
    • Sim, S.C.1    Ingelman–Sundberg, M.2
  • 10
    • 84857273073 scopus 로고    scopus 로고
    • Cytochrome P450 variations in different ethnic populations
    • McGraw, J. & Waller, D. Cytochrome P450 variations in different ethnic populations. Expert Opin. Drug Metab. Toxicol. 8, 371–382 (2012).
    • (2012) Expert Opin. Drug Metab. Toxicol. , vol.8 , pp. 371-382
    • McGraw, J.1    Waller, D.2
  • 11
    • 84875211310 scopus 로고    scopus 로고
    • Cytochrome P450 enzymes in drug metabolism: regulation of gene expression, enzyme activities, and impact of genetic variation
    • Zanger, U.M. & Schwab, M. Cytochrome P450 enzymes in drug metabolism: regulation of gene expression, enzyme activities, and impact of genetic variation. Pharmacol. Ther. 138, 103–141 (2013).
    • (2013) Pharmacol. Ther. , vol.138 , pp. 103-141
    • Zanger, U.M.1    Schwab, M.2
  • 12
    • 84943171338 scopus 로고    scopus 로고
    • A global reference for human genetic variation
    • 1000 Genomes Project Consortium et al. A global reference for human genetic variation. Nature 526, 68–74 (2015).
    • (2015) Nature , vol.526 , pp. 68-74
  • 13
    • 84982253941 scopus 로고    scopus 로고
    • Analysis of protein-coding genetic variation in 60,706 humans
    • Lek, M. et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285–291 (2016).
    • (2016) Nature , vol.536 , pp. 285-291
    • Lek, M.1
  • 14
    • 84858076807 scopus 로고    scopus 로고
    • Genetic polymorphisms of drug-metabolizing phase I enzymes CYP2E1, CYP2A6 and CYP3A5 in South Indian population
    • Krishnakumar, D. et al. Genetic polymorphisms of drug-metabolizing phase I enzymes CYP2E1, CYP2A6 and CYP3A5 in South Indian population. Fundam. Clin. Pharmacol. 26, 295–306 (2012).
    • (2012) Fundam. Clin. Pharmacol. , vol.26 , pp. 295-306
    • Krishnakumar, D.1
  • 15
    • 84876145967 scopus 로고    scopus 로고
    • Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the Chilean population: comparison with Caucasian and Asian populations
    • Roco, A. et al. Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the Chilean population: comparison with Caucasian and Asian populations. Front. Genet. 3, 229 (2012).
    • (2012) Front. Genet. , vol.3 , pp. 229
    • Roco, A.1
  • 17
    • 30344457586 scopus 로고    scopus 로고
    • A common novel CYP2C19 gene variant causes ultrarapid drug metabolism relevant for the drug response to proton pump inhibitors and antidepressants
    • Sim, S.C. et al. A common novel CYP2C19 gene variant causes ultrarapid drug metabolism relevant for the drug response to proton pump inhibitors and antidepressants. Clin. Pharmacol. Ther. 79, 103–113 (2006).
    • (2006) Clin. Pharmacol. Ther. , vol.79 , pp. 103-113
    • Sim, S.C.1
  • 18
    • 77951914218 scopus 로고    scopus 로고
    • The transcription factor GATA-4 regulates cytochrome P4502C19 gene expression
    • Mwinyi, J. et al. The transcription factor GATA-4 regulates cytochrome P4502C19 gene expression. Life Sci. 86, 699–706 (2010).
    • (2010) Life Sci. , vol.86 , pp. 699-706
    • Mwinyi, J.1
  • 19
    • 0030432585 scopus 로고    scopus 로고
    • Frequent distribution of ultrarapid metabolizers of debrisoquine in an Ethiopian population carrying duplicated and multiduplicated functional CYP2D6 alleles
    • Aklillu, E., Persson, I., Bertilsson, L., Johansson, I., Rodrigues, F. & Ingelman–Sundberg, M. Frequent distribution of ultrarapid metabolizers of debrisoquine in an Ethiopian population carrying duplicated and multiduplicated functional CYP2D6 alleles. J. Pharmacol. Exp. Ther. 278, 441–446 (1996).
    • (1996) J. Pharmacol. Exp. Ther. , vol.278 , pp. 441-446
    • Aklillu, E.1    Persson, I.2    Bertilsson, L.3    Johansson, I.4    Rodrigues, F.5    Ingelman–Sundberg, M.6
  • 21
    • 0035071598 scopus 로고    scopus 로고
    • Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression
    • Kuehl, P. et al. Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression. Nat. Genet. 27, 383–391 (2001).
    • (2001) Nat. Genet. , vol.27 , pp. 383-391
    • Kuehl, P.1
  • 22
    • 0036320872 scopus 로고    scopus 로고
    • Comparative metabolic capabilities of CYP3A4, CYP3A5, and CYP3A7
    • Williams, J.A. et al. Comparative metabolic capabilities of CYP3A4, CYP3A5, and CYP3A7. Drug Metab. Dispos. 30, 883–891 (2002).
    • (2002) Drug Metab. Dispos. , vol.30 , pp. 883-891
    • Williams, J.A.1
  • 23
    • 84945272509 scopus 로고    scopus 로고
    • Interethnic variation of CYP2C19 alleles, “predicted” phenotypes and “measured” metabolic phenotypes across world populations
    • Fricke–Galindo, I. et al. Interethnic variation of CYP2C19 alleles, “predicted” phenotypes and “measured” metabolic phenotypes across world populations. Pharmacogenomics J. 16, 113–123 (2016).
    • (2016) Pharmacogenomics J. , vol.16 , pp. 113-123
    • Fricke–Galindo, I.1
  • 24
    • 84962394091 scopus 로고    scopus 로고
    • Pharmacogenetic allele nomenclature: international workgroup recommendations for test result reporting
    • Kalman, L.V. et al. Pharmacogenetic allele nomenclature: international workgroup recommendations for test result reporting. Clin. Pharmacol. Ther. 99, 172–185 (2016).
    • (2016) Clin. Pharmacol. Ther. , vol.99 , pp. 172-185
    • Kalman, L.V.1
  • 25
    • 0033408498 scopus 로고    scopus 로고
    • Analysis of the CYP2D6 gene mutations and their consequences for enzyme function in a West African population
    • Griese, E.U., Asante–Poku, S., Ofori–Adjei, D., Mikus, G. & Eichelbaum, M. Analysis of the CYP2D6 gene mutations and their consequences for enzyme function in a West African population. Pharmacogenetics 9, 715–723 (1999).
    • (1999) Pharmacogenetics , vol.9 , pp. 715-723
    • Griese, E.U.1    Asante–Poku, S.2    Ofori–Adjei, D.3    Mikus, G.4    Eichelbaum, M.5
  • 27
    • 84876981068 scopus 로고    scopus 로고
    • Molecular diversity and population structure at the cytochrome P450 3A5 gene in Africa
    • Bains, R.K. et al. Molecular diversity and population structure at the cytochrome P450 3A5 gene in Africa. BMC Genet. 14, 34 (2013).
    • (2013) BMC Genet. , vol.14 , pp. 34
    • Bains, R.K.1
  • 28
    • 0035064372 scopus 로고    scopus 로고
    • Variable CYP2A6-mediated nicotine metabolism alters smoking behavior and risk
    • Tyndale, R.F. & Sellers, E.M. Variable CYP2A6-mediated nicotine metabolism alters smoking behavior and risk. Drug Metab. Dispos. 29(4 Pt 2), 548–552 (2001).
    • (2001) Drug Metab. Dispos. , vol.29 , Issue.4 , pp. 548-552
    • Tyndale, R.F.1    Sellers, E.M.2
  • 29
    • 0036716809 scopus 로고    scopus 로고
    • Genetic polymorphism of CYP2A6 gene and tobacco-induced lung cancer risk in male smokers
    • Ariyoshi, N. et al. Genetic polymorphism of CYP2A6 gene and tobacco-induced lung cancer risk in male smokers. Cancer Epidemiol. Biomarkers Prev. 11, 890–894 (2002).
    • (2002) Cancer Epidemiol. Biomarkers Prev. , vol.11 , pp. 890-894
    • Ariyoshi, N.1
  • 30
    • 0038002981 scopus 로고    scopus 로고
    • The cytochrome P450 2B6 (CYP2B6) is the main catalyst of efavirenz primary and secondary metabolism: implication for HIV/AIDS therapy and utility of efavirenz as a substrate marker of CYP2B6 catalytic activity
    • Ward, B.A., Gorski, J.C., Jones, D.R., Hall, S.D., Flockhart, D.A. & Desta, Z. The cytochrome P450 2B6 (CYP2B6) is the main catalyst of efavirenz primary and secondary metabolism: implication for HIV/AIDS therapy and utility of efavirenz as a substrate marker of CYP2B6 catalytic activity. J. Pharmacol. Exp. Ther. 306, 287–300 (2003).
    • (2003) J. Pharmacol. Exp. Ther. , vol.306 , pp. 287-300
    • Ward, B.A.1    Gorski, J.C.2    Jones, D.R.3    Hall, S.D.4    Flockhart, D.A.5    Desta, Z.6
  • 31
    • 77953756056 scopus 로고    scopus 로고
    • Efavirenz primary and secondary metabolism in vitro and in vivo: identification of novel metabolic pathways and cytochrome P450 2A6 as the principal catalyst of efavirenz 7-hydroxylation
    • Ogburn, E.T., Jones, D.R., Masters, A.R., Xu, C., Guo, Y. & Desta, Z. Efavirenz primary and secondary metabolism in vitro and in vivo: identification of novel metabolic pathways and cytochrome P450 2A6 as the principal catalyst of efavirenz 7-hydroxylation. Drug Metab. Dispos. 38, 1218–1229 (2010).
    • (2010) Drug Metab. Dispos. , vol.38 , pp. 1218-1229
    • Ogburn, E.T.1    Jones, D.R.2    Masters, A.R.3    Xu, C.4    Guo, Y.5    Desta, Z.6
  • 32
    • 84892471332 scopus 로고    scopus 로고
    • Pharmacogenetic associations with plasma efavirenz concentrations and clinical correlates in a retrospective cohort of Ghanaian HIV-infected patients
    • Sarfo, F.S. et al. Pharmacogenetic associations with plasma efavirenz concentrations and clinical correlates in a retrospective cohort of Ghanaian HIV-infected patients. J. Antimicrob. Chemother. 69, 491–499 (2014).
    • (2014) J. Antimicrob. Chemother. , vol.69 , pp. 491-499
    • Sarfo, F.S.1
  • 33
    • 20244364148 scopus 로고    scopus 로고
    • Influence of CYP2B6 polymorphism on plasma and intracellular concentrations and toxicity of efavirenz and nevirapine in HIV-infected patients
    • Rotger, M. et al. Influence of CYP2B6 polymorphism on plasma and intracellular concentrations and toxicity of efavirenz and nevirapine in HIV-infected patients. Pharmacogenet. Genomics 15, 1–5 (2005).
    • (2005) Pharmacogenet. Genomics , vol.15 , pp. 1-5
    • Rotger, M.1
  • 34
    • 84956818202 scopus 로고    scopus 로고
    • Case report: severe central nervous system manifestations associated with aberrant efavirenz metabolism in children: the role of CYP2B6 genetic variation
    • Pinillos, F. et al. Case report: severe central nervous system manifestations associated with aberrant efavirenz metabolism in children: the role of CYP2B6 genetic variation. BMC Infect. Dis. 16, 56 (2016).
    • (2016) BMC Infect. Dis. , vol.16 , pp. 56
    • Pinillos, F.1
  • 35
    • 34250764311 scopus 로고    scopus 로고
    • Impact of CYP2B6 polymorphism on hepatic efavirenz metabolism in vitro
    • Desta, Z. et al. Impact of CYP2B6 polymorphism on hepatic efavirenz metabolism in vitro. Pharmacogenomics 8, 547–558 (2007).
    • (2007) Pharmacogenomics , vol.8 , pp. 547-558
    • Desta, Z.1
  • 36
    • 33644910426 scopus 로고    scopus 로고
    • Interpatient variability in the pharmacokinetics of the HIV non-nucleoside reverse transcriptase inhibitor efavirenz: the effect of gender, race, and CYP2B6 polymorphism
    • Burger, D. et al. Interpatient variability in the pharmacokinetics of the HIV non-nucleoside reverse transcriptase inhibitor efavirenz: the effect of gender, race, and CYP2B6 polymorphism. Br. J. Clin. Pharmacol. 61, 148–154 (2006).
    • (2006) Br. J. Clin. Pharmacol. , vol.61 , pp. 148-154
    • Burger, D.1
  • 37
    • 58449133201 scopus 로고    scopus 로고
    • Pharmacogenetic studies of paclitaxel in the treatment of ovarian cancer
    • Gréen, H. et al. Pharmacogenetic studies of paclitaxel in the treatment of ovarian cancer. Basic Clin. Pharmacol. Toxicol. 104, 130–137 (2009).
    • (2009) Basic Clin. Pharmacol. Toxicol. , vol.104 , pp. 130-137
    • Gréen, H.1
  • 38
    • 84875940168 scopus 로고    scopus 로고
    • CYP2C8*3 increases risk of neuropathy in breast cancer patients treated with paclitaxel
    • Hertz, D.L. et al. CYP2C8*3 increases risk of neuropathy in breast cancer patients treated with paclitaxel. Ann. Oncol. 24, 1472–1478 (2013).
    • (2013) Ann. Oncol. , vol.24 , pp. 1472-1478
    • Hertz, D.L.1
  • 39
    • 84937160840 scopus 로고    scopus 로고
    • CYP2C9 polymorphisms and phenytoin metabolism: implications for adverse effects
    • Franco, V. & Perucca, E. CYP2C9 polymorphisms and phenytoin metabolism: implications for adverse effects. Expert Opin. Drug Metab. Toxicol. 11, 1269–1279 (2015).
    • (2015) Expert Opin. Drug Metab. Toxicol. , vol.11 , pp. 1269-1279
    • Franco, V.1    Perucca, E.2
  • 40
    • 80052962391 scopus 로고    scopus 로고
    • Clinical Pharmacogenetics Implementation Consortium guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing
    • Johnson, J.A. et al. Clinical Pharmacogenetics Implementation Consortium guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing. Clin. Pharmacol. Ther. 90, 625–629 (2011).
    • (2011) Clin. Pharmacol. Ther. , vol.90 , pp. 625-629
    • Johnson, J.A.1
  • 41
    • 84889873119 scopus 로고    scopus 로고
    • A randomized trial of genotype-guided dosing of warfarin
    • Pirmohamed, M. et al. A randomized trial of genotype-guided dosing of warfarin. N. Engl. J. Med. 369, 2294–2303 (2013).
    • (2013) N. Engl. J. Med. , vol.369 , pp. 2294-2303
    • Pirmohamed, M.1
  • 42
    • 1242269894 scopus 로고    scopus 로고
    • Increased incidence of CYP2D6 gene duplication in patients with persistent mood disorders: ultrarapid metabolism of antidepressants as a cause of nonresponse. A pilot study
    • Kawanishi, C., Lundgren, S., Agren, H. & Bertilsson, L. Increased incidence of CYP2D6 gene duplication in patients with persistent mood disorders: ultrarapid metabolism of antidepressants as a cause of nonresponse. A pilot study. Eur. J. Clin. Pharmacol. 59, 803–807 (2004).
    • (2004) Eur. J. Clin. Pharmacol. , vol.59 , pp. 803-807
    • Kawanishi, C.1    Lundgren, S.2    Agren, H.3    Bertilsson, L.4
  • 43
    • 51449102329 scopus 로고    scopus 로고
    • Respiratory depression with tramadol in a patient with renal impairment and CYP2D6 gene duplication
    • Stamer, U.M., Stüber, F., Muders, T. & Musshoff, F. Respiratory depression with tramadol in a patient with renal impairment and CYP2D6 gene duplication. Anesth. Analg. 107, 926–929 (2008).
    • (2008) Anesth. Analg. , vol.107 , pp. 926-929
    • Stamer, U.M.1    Stüber, F.2    Muders, T.3    Musshoff, F.4
  • 44
    • 11144221180 scopus 로고    scopus 로고
    • Codeine intoxication associated with ultrarapid CYP2D6 metabolism
    • Gasche, Y. et al. Codeine intoxication associated with ultrarapid CYP2D6 metabolism. N. Engl. J. Med. 351, 2827–2831 (2004).
    • (2004) N. Engl. J. Med. , vol.351 , pp. 2827-2831
    • Gasche, Y.1
  • 45
    • 0142188770 scopus 로고    scopus 로고
    • Correlation of CYP2D6 genotype with perhexiline phenotypic metabolizer status
    • Barclay, M.L. et al. Correlation of CYP2D6 genotype with perhexiline phenotypic metabolizer status. Pharmacogenetics 13, 627–632 (2003).
    • (2003) Pharmacogenetics , vol.13 , pp. 627-632
    • Barclay, M.L.1
  • 46
    • 33646807462 scopus 로고    scopus 로고
    • Acute dystonic reaction to metoclopramide in patients carrying homozygous cytochrome P450 2D6 genetic polymorphisms
    • van der Padt, A., van Schaik, R.H. & Sonneveld, P. Acute dystonic reaction to metoclopramide in patients carrying homozygous cytochrome P450 2D6 genetic polymorphisms. Neth. J. Med. 64, 160–162 (2006).
    • (2006) Neth. J. Med. , vol.64 , pp. 160-162
    • van der Padt, A.1    van Schaik, R.H.2    Sonneveld, P.3
  • 47
    • 13844320650 scopus 로고    scopus 로고
    • The CYP2D6 poor metabolizer phenotype may be associated with risperidone adverse drug reactions and discontinuation
    • de Leon, J., Susce, M.T., Pan, R.M., Fairchild, M., Koch, W.H. & Wedlund, P.J. The CYP2D6 poor metabolizer phenotype may be associated with risperidone adverse drug reactions and discontinuation. J. Clin. Psychiatry 66, 15–27 (2005).
    • (2005) J. Clin. Psychiatry , vol.66 , pp. 15-27
    • de Leon, J.1    Susce, M.T.2    Pan, R.M.3    Fairchild, M.4    Koch, W.H.5    Wedlund, P.J.6
  • 48
    • 81255160848 scopus 로고    scopus 로고
    • Single nucleotide polymorphism associations with response and toxic effects in patients with advanced renal-cell carcinoma treated with first-line sunitinib: a multicentre, observational, prospective study
    • Garcia–Donas, J. et al. Single nucleotide polymorphism associations with response and toxic effects in patients with advanced renal-cell carcinoma treated with first-line sunitinib: a multicentre, observational, prospective study. Lancet Oncol. 12, 1143–1150 (2011).
    • (2011) Lancet Oncol. , vol.12 , pp. 1143-1150
    • Garcia–Donas, J.1
  • 50
    • 84947599300 scopus 로고    scopus 로고
    • LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants
    • Machiela, M.J. & Chanock, S.J. LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants. Bioinformatics 31, 3555–3557 (2015).
    • (2015) Bioinformatics , vol.31 , pp. 3555-3557
    • Machiela, M.J.1    Chanock, S.J.2


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