Pharmacogenetics, Drug-Metabolizing Enzymes, and Clinical Practice

The Metabolic and Molecular Bases of Inherited Disease

Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101

A method for estimating the probability of adverse drug reactions

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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

Shimada, T., Yamazaki, H., Mimura, M., Inui, Y., & Guengerich, F. P. (1994) · The Journal of Pharmacology and Experimental Therapeutics · doi:10.1016/s0022-3565(25)22379-5 · Cited by 2,785 · cited 1×

Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression

Kuehl, P., Zhang, J., Lin, Y., Lamba, J., Assem, M., Schuetz, J., Watkins, P. B., Daly, A., Wrighton, S. A., Hall, S. D., et al. (2001) · Nature Genetics · doi:10.1038/86882 · Cited by 2,162

American Thoracic Society/Centers for Disease Control and Prevention/Infectious Diseases Society of America: Treatment of Tuberculosis

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The Genetic Basis of the Reduced Expression of Bilirubin UDP-Glucuronosyltransferase 1 in Gilbert's Syndrome

Bosma, P. J., Chowdhury, J. R., Bakker, C., Gantla, S., de Boer, A., Oostra, B. A., Lindhout, D., Tytgat, G. N. J., Jansen, P. L. M., Elferink, R. P. J. O., et al. (1995) · New England Journal of Medicine · doi:10.1056/nejm199511023331802 · Cited by 1,447

Effect of VKORC1 Haplotypes on Transcriptional Regulation and Warfarin Dose

Rieder, M. J., Reiner, A. P., Gage, B. F., Nickerson, D. A., Eby, C. S., McLeod, H. L., Blough, D. K., Thummel, K. E., Veenstra, D. L., & Rettie, A. E. (2005) · New England Journal of Medicine · doi:10.1056/nejmoa044503 · Cited by 1,399

Clinical Pharmacology of Tramadol

Grond, S., & Sablotzki, A. (2004) · Clinical Pharmacokinetics · doi:10.2165/00003088-200443130-00004 · Cited by 1,282

Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications

Aithal, G. P., Day, C. P., Kesteven, P. J., & Daly, A. K. (1999) · The Lancet · doi:10.1016/s0140-6736(98)04474-2 · Cited by 1,243

Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity.

Weinshilboum, R. M., & Sladek, S. L. (1980) · PubMed · Cited by 1,195

POLYMORPHIC HYDROXYLATION OF DEBRISOQUINE IN MAN

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Guidelines for the management of rheumatoid arthritis: 2002 Update

Yood, R. A. (2002) · Cited by 1,090

Association Between CYP2C9 Genetic Variants and Anticoagulation-Related Outcomes During Warfarin Therapy

Higashi, M. K. (2002) · JAMA · doi:10.1001/jama.287.13.1690 · Cited by 1,048

Inheritance and Drug Response

Weinshilboum, R. (2003) · New England Journal of Medicine · doi:10.1056/nejmra020021 · Cited by 1,031

Pharmacogenomics and metabolite measurement for 6-mercaptopurine therapy in inflammatory bowel disease

Dubinsky, M. C., Lamothe, S., Yang, H. Y., Targan, S. R., Sinnett, D., Théorêt, Y., & Seidman, E. G. (2000) · Gastroenterology · doi:10.1016/s0016-5085(00)70140-5 · Cited by 996

Cytochrome P450 2D6 variants in a Caucasian population: allele frequencies and phenotypic consequences.

Sachse, C., Brockmöller, J., Bauer, S., & Roots, I. (1997) · Europe PMC (PubMed Central) · Cited by 973

Clinical Pharmacology of 5-Fluorouracil

Diasio, R. B., & Harris, B. E. (1989) · Clinical Pharmacokinetics · doi:10.2165/00003088-198916040-00002 · Cited by 969

Genetic Variants in the UDP-glucuronosyltransferase 1A1 Gene Predict the Risk of Severe Neutropenia of Irinotecan

Innocenti, F., Undevia, S. D., Iyer, L., Xian Chen, P., Das, S., Kocherginsky, M., Karrison, T., Janisch, L., Ramírez, J., Rudin, C. M., et al. (2004) · Journal of Clinical Oncology · doi:10.1200/jco.2004.07.173 · Cited by 964

The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans.

de Morais, S. M., Wilkinson, G. R., Blaisdell, J., Nakamura, K., Meyer, U. A., & Goldstein, J. A. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)40694-6 · Cited by 956

Azathioprine and 6-Mercaptopurine in Crohn Disease: A Meta-Analysis

Pearson, D. C., May, G. R., Fick, G. H., & Sutherland, L. R. (1995) · Annals of Internal Medicine · doi:10.7326/0003-4819-123-2-199507150-00009 · Cited by 950

The impact of CYP2C9 and VKORC1 genetic polymorphism and patient characteristics upon warfarin dose requirements: proposal for a new dosing regimen

Sconce, E. A., Khan, T. I., Wynne, H. A., Avery, P., Monkhouse, L., King, B. P., Wood, P., Kesteven, P., Daly, A. K., & Kamali, F. (2005) · Blood · doi:10.1182/blood-2005-03-1108 · Cited by 947

Clinical Significance of the Cytochrome P450 2C19 Genetic Polymorphism

Desta, Z., Zhao, X., Shin, J.-G., & Flockhart, D. A. (2002) · Clinical Pharmacokinetics · doi:10.2165/00003088-200241120-00002 · Cited by 942

Efavirenz plasma levels can predict treatment failure and central nervous system side effects in HIV-1-infected patients

Marzolini, C., Telenti, A., Decosterd, L. A., Greub, G., Biollaz, J., & Buclin, T. (2001) · AIDS · doi:10.1097/00002030-200101050-00011 · Cited by 840

Space-Time Relationships in Somesthetic Localization

Jones, F. N. (1956) · Science · doi:10.1126/science.124.3220.484-a · Cited by 836

Human P450 metabolism of warfarin

Kaminsky, L. S., & Zhang, Z.-Y. (1997) · Pharmacology & Therapeutics · doi:10.1016/s0163-7258(96)00140-4 · Cited by 798

Genetic Control of Isoniazid Metabolism in Man

Evans, D. A. P., Manley, K. A., & McKusick, V. A. (1960) · BMJ · doi:10.1136/bmj.2.5197.485 · Cited by 784

Polymorphisms of UDP-glucuronosyltransferase gene and irinotecan toxicity: a pharmacogenetic analysis.

Ando, Y., Saka, H., Ando, M., Sawa, T., Muro, K., Ueoka, H., Yokoyama, A., Saitoh, S., Shimokata, K., & Hasegawa, Y. (2000) · PubMed · Cited by 783

Molecular Diagnosis of Thiopurine S-Methyltransferase Deficiency: Genetic Basis for Azathioprine and Mercaptopurine Intolerance

Yates, C. R., Krynetski, E. Y., Loennechen, T., Fessing, M. Y., Tai, H.-L., Pui, C.-H., Relling, M. V., & Evans, W. E. (1997) · Annals of Internal Medicine · doi:10.7326/0003-4819-126-8-199704150-00003 · Cited by 756

Mercaptopurine Therapy Intolerance and Heterozygosity at the Thiopurine S-Methyltransferase Gene Locus

Relling, M. V., Hancock, M. L., Rivera, G. K., Sandlund, J. T., Ribeiro, R. C., Krynetski, E. Y., Pui, C.-H., & Evans, W. E. (1999) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/91.23.2001 · Cited by 733

A common novel CYP2C19 gene variant causes ultrarapid drug metabolism relevant for the drug response to proton pump inhibitors and antidepressants

SIM, S., RISINGER, C., DAHL, M., AKLILLU, E., CHRISTENSEN, M., BERTILSSON, L., & INGELMANSUNDBERG, M. (2006) · Clinical Pharmacology & Therapeutics · doi:10.1016/j.clpt.2005.10.002 · Cited by 732

Pharmacogenetics of antidepressants and antipsychotics: the contribution of allelic variations to the phenotype of drug response

Kirchheiner, J., Nickchen, K., Bauer, M., Wong, M.-L., Licinio, J., Roots, I., & Brockmöller, J. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001494 · Cited by 724

Clinical pharmacokinetics of 5-fluorouracil and its metabolites in plasma, urine, and bile.

Heggie, G. D., Sommadossi, J., Cross, D. S., Huster, W. J., & Diasio, R. B. (1987) · PubMed · Cited by 722

UGT1A1*28 polymorphism as a determinant of irinotecan disposition and toxicity

Iyer, L., Das, S., Janisch, L., Wen, M., Ramírez, J., Karrison, T., Fleming, G. F., Vokes, E. E., Schilsky, R. L., & Ratain, M. J. (2002) · The Pharmacogenomics Journal · doi:10.1038/sj.tpj.6500072 · Cited by 720

Characterization of the common genetic defect in humans deficient in debrisoquine metabolism

Gonzalez, F. J., Skodat, R. C., Kimura, S., Umeno, M., Zanger, U. M., Nebert, D. W., Gelboin, H. V., Hardwick, J. P., & Meyer, U. A. (1988) · Nature · doi:10.1038/331442a0 · Cited by 715

Adverse Reactions to Trimethoprim-Sulfamethoxazole in Patients with the Acquired Immunodeficiency Syndrome

GORDIN, F. M., SIMON, G. L., WOFSY, C. B., & MILLS, J. (1984) · Annals of Internal Medicine · doi:10.7326/0003-4819-100-4-495 · Cited by 704

Codeine Intoxication Associated with Ultrarapid CYP2D6 Metabolism

Gasche, Y., Daali, Y., Fathi, M., Chiappe, A., Cottini, S., Dayer, P., & Desmeules, J. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa041888 · Cited by 702

The purine path to chemotherapy

Elion, G. B. (1989) · Science · doi:10.1126/science.2649979 · Cited by 687

Cytochrome P450 2C9 polymorphisms: a comprehensive review of the in-vitro and human data

Lee, C. R., Goldstein, J. A., & Pieper, J. A. (2002) · Pharmacogenetics · doi:10.1097/00008571-200204000-00010 · Cited by 686

Genetic predisposition to the metabolism of irinotecan (CPT-11). Role of uridine diphosphate glucuronosyltransferase isoform 1A1 in the glucuronidation of its active metabolite (SN-38) in human liver microsomes.

Iyer, L., King, C. D., Whitington, P. F., Green, M. D., Roy, S. K., Tephly, T. R., Coffman, B. L., & Ratain, M. J. (1998) · Journal of Clinical Investigation · doi:10.1172/jci915 · Cited by 686

Genetic polymorphisms of the CYP3A4, CYP3A5, and MDR-1 genes and pharmacokinetics of the calcineurin inhibitors cyclosporine and tacrolimus

Hesselink, D. (2003) · Clinical Pharmacology & Therapeutics · doi:10.1016/s0009-9236(03)00168-1 · Cited by 655

Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia

Lennard, L., Lilleyman, J. S., Van Loon, J., & Weinshilboum, R. M. (1990) · The Lancet · doi:10.1016/0140-6736(90)91745-v · Cited by 651

Defective N-oxidation of sparteine in man: A new pharmacogenetic defect

Eichelbaum, M., Spannbrucker, N., Steincke, B., & Dengler, H. J. (1979) · European Journal of Clinical Pharmacology · doi:10.1007/bf00562059 · Cited by 632

Pharmacogenetics of efavirenz and central nervous system side effects: an Adult AIDS Clinical Trials Group study.

Haas, D. W., Ribaudo, H. J., Kim, R. B., Tierney, C., Wilkinson, G. R., Gulick, R. M., Clifford, D. B., Hulgan, T., Marzolini, C., & Acosta, E. P. (2004) · PubMed · Cited by 627

Genotypic analysis of thiopurine S-methyltransferase in patients with Crohn's disease and severe myelosuppression during azathioprine therapy

Colombel, J., Ferrari, N., Debuysere, H., Marteau, P., Gendre, J., Bonaz, B., Soulé, J.-C., Modigliani, R., Touze, Y., Catala, P., et al. (2000) · Gastroenterology · doi:10.1016/s0016-5085(00)70354-4 · Cited by 619

Pharmacogenetics and adverse drug reactions

Meyer, U. A. (2000) · The Lancet · doi:10.1016/s0140-6736(00)03167-6 · Cited by 602

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. (2003) · The Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.103.049601 · Cited by 593

The role of the CFP2C9-Leu 359 allelic variant in the tolbutamide polymorphism

Sullivan-Klose, T. H., Ghanayem, B. I., Bell, D. A., Zhang, Z.-Y., Kaminsky, L. S., Shenfleld, G. M., Miners, J. O., Birkett, D. J., & Goldstein, J. A. (1996) · Pharmacogenetics · doi:10.1097/00008571-199608000-00007 · Cited by 582

Extensive genetic polymorphism in the human CYP2B6 gene with impact on expression and function in human liver.

Lang, T., Klein, K., Fischer, J., Nussler, A. K., Neuhaus, P., Hofmann, U., Eichelbaum, M., Schwab, M. G., & Zanger, U. M. (2001) · Pharmacogenetics · doi:10.1097/00008571-200107000-00004 · Cited by 571

Biochemistry and molecular biology of the human CYP2C subfamily

Goldstein, J. A., & de Morais, S. M. F. (1994) · Pharmacogenetics · doi:10.1097/00008571-199412000-00001 · Cited by 529

Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity.

Diasio, R. B., Beavers, T. L., & Carpenter, J. T. (1988) · Journal of Clinical Investigation · doi:10.1172/jci113308 · Cited by 503

Polymorphisms in human CYP2C8 decrease metabolism of the anticancer drug paclitaxel and arachidonic acid

Dai, D., Zeldin, D. C., Blaisdell, J. A., Chanas, B., Coulter, S. J., Ghanayem, B. I., & Goldstein, J. A. (2001) · Pharmacogenetics · doi:10.1097/00008571-200110000-00006 · Cited by 494

6-MP metabolite profiles provide a biochemical explanation for 6-MP resistance in patients with inflammatory bowel disease

Dubinsky, M. C., Yang, H., Hassard, P. V., Seidman, E. G., Kam, L. Y., Abreu, M. T., Targan, S. R., & Vasiliauskas, E. A. (2002) · Gastroenterology · doi:10.1053/gast.2002.32420 · Cited by 483

Clinical consequences of cytochrome P450 2C9 polymorphisms

KIRCHHEINER, J., & BROCKMOLLER, J. (2005) · Clinical Pharmacology & Therapeutics · doi:10.1016/j.clpt.2004.08.009 · Cited by 474

Interethnic differences in genetic polymorphism of debrisoquin and mephenytoin hydroxylation between Japanese and Caucasian populations

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Co-Regulation of CYP3A4 and CYP3A5 and Contribution to Hepatic and Intestinal Midazolam Metabolism

Lin, Y. S., Dowling, A. L. S., Quigley, S. D., Farin, F. M., Zhang, J., Lamba, J., Schuetz, E. G., & Thummel, K. E. (2002) · Molecular Pharmacology · doi:10.1124/mol.62.1.162 · Cited by 449

Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man.

Bosma, P. J., Seppen, J., Goldhoorn, B., Bakker, C., Oude Elferink, R. P., Chowdhury, J. R., Chowdhury, N. R., & Jansen, P. L. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)32403-1 · Cited by 446

Adverse Reactions during Salicylazosulfapyridine Therapy and the Relation with Drug Metabolism and Acetylator Phenotype

Das, K. M., Eastwood, M. A., McManus, J. P. A., & Sircus, W. (1973) · New England Journal of Medicine · doi:10.1056/nejm197309062891001 · Cited by 445

Relationship between dihydropyrimidine dehydrogenase activity and plasma 5-fluorouracil levels with evidence for circadian variation of enzyme activity and plasma drug levels in cancer patients receiving 5-fluorouracil by protracted continuous infusion.

Harris, B., Song, R., Soong, S.-J., & Diasio, R. B. (1990) · PubMed · Cited by 441

Clinical Pharmacokinetics of Ibuprofen: The First 30 Years

Davies, N. M. (1998) · Clinical Pharmacokinetics · doi:10.2165/00003088-199834020-00002 · Cited by 440

Population study of dihydropyrimidine dehydrogenase in cancer patients.

Etienne, M. C., Lagrange, J. L., Dassonville, O., Fleming, R., Thyss, A., Renée, N., Schneider, M., Demard, F., & Milano, G. (1994) · Journal of Clinical Oncology · doi:10.1200/jco.1994.12.11.2248 · Cited by 436

Polymorphism of the N -acetyltransferase 2 gene as a susceptibility risk factor for antituberculosis drug-induced hepatitis

Huang, Y.-S., Chern, H.-D., Su, W.-J., Wu, J.-C., Lai, S.-L., Yang, S.-Y., Chang, F.-Y., & Lee, S.-D. (2002) · Hepatology · doi:10.1053/jhep.2002.32102 · Cited by 432

CYP2D6 and CYP2C19 genotype‐based dose recommendations for antidepressants: a first step towards subpopulation‐specific dosages

Kirchheiner, J., Brøsen, K., Dahl, M. L., Gram, L. F., Kasper, S., Roots, I., Sjöqvist, F., Spina, E., & Brockmöller, J. (2001) · Acta Psychiatrica Scandinavica · doi:10.1034/j.1600-0447.2001.00299.x · Cited by 422

High incidence of secondary brain tumours after radiotherapy and antimetabolites

Relling, M. V., Rubnitz, J. E., Rivera, G. K., Boyett, J. M., Hancock, M. L., Felix, C. A., Kun, L. E., Walter, A. W., Evans, W. E., & Pui, C.-H. (1999) · The Lancet · doi:10.1016/s0140-6736(98)11079-6 · Cited by 411

Gemfibrozil and Its Glucuronide Inhibit the Organic Anion Transporting Polypeptide 2 (OATP2/OATP1B1:SLC21A6)-Mediated Hepatic Uptake and CYP2C8-Mediated Metabolism of Cerivastatin: Analysis of the Mechanism of the Clinically Relevant Drug-Drug Interaction between Cerivastatin and Gemfibrozil

Shitara, Y., Hirano, M., Sato, H., & Sugiyama, Y. (2004) · The Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.104.068536 · Cited by 407

Pronounced differences between native Chinese and Swedish populations in the polymorphic hydroxylations of debrisoquin and S-mephenytoin

Bertilsson, L., Lou, Y.-Q., Du, Y.-L., Liu, Y., Kuang, T.-Y., Liao, X.-M., Wang, K.-Y., Reviriego, J., Iselius, L., & Sjöqvist, F. (1992) · Clinical Pharmacology and Therapeutics · doi:10.1038/clpt.1992.38 · Cited by 399

CYP2B6 Mediates the In Vitro Hydroxylation of Bupropion: Potential Drug Interactions with Other Antidepressants

Hesse, L. M., Venkatakrishnan, K., Court, M. H., von Moltke, L. L., Duan, S. X., Shader, R. I., & Greenblatt, D. J. (2000) · Drug Metabolism and Disposition · doi:10.1016/s0026-895x(24)12046-9 · Cited by 397

Influence of cytochrome P-450 CYP2C9 polymorphisms on warfarin sensitivity and risk of over-anticoagulation in patients on long-term treatment

Taube, J., Halsall, D., & Baglin, T. (2000) · Blood · doi:10.1182/blood.v96.5.1816 · Cited by 392

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. (1996) · The Journal of Pharmacology and Experimental Therapeutics · doi:10.1016/s0022-3565(25)20152-5 · Cited by 392

Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphocytic leukemia

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Human thiopurine methyltransferase pharmacogenetics: Gene sequence polymorphisms*

Otterness, D., Szumlanski, C., Lennard, L., Klemetsdal, B., Aarbakke, J., Park-Hah, J. O., Iven, H., Schmiegelow, K., Branum, E., O'Brien, J., et al. (1997) · Clinical Pharmacology & Therapeutics · doi:10.1016/s0009-9236(97)90152-1 · Cited by 390

Effect of Acetylator Phenotype on the Rate at Which Procainamide Induces Antinuclear Antibodies and the Lupus Syndrome

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Selective biotransformation of taxol to 6 alpha-hydroxytaxol by human cytochrome P450 2C8.

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The hypoalgesic effect of tramadol in relation to CYP2D6*

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Different contributions of polymorphisms in VKORC1 and CYP2C9 to intra-and inter-population differences in maintenance dose of warfarin in Japanese, Caucasians and African-Americans

Takahashi, H., Wilkinson, G. R., Nutescu, E. A., Morita, T., Ritchie, M. D., Scordo, M. G., Pengo, V., Barban, M., Padrini, R., Ieiri, I., et al. (2006) · Pharmacogenetics and Genomics · doi:10.1097/01.fpc.0000184955.08453.a8 · Cited by 376

Thiopurine Methyltransferase Genotype Predicts Therapy-Limiting Severe Toxicity from Azathioprine

Black, A. J., McLeod, H. L., Capell, H. A., Powrie, R. H., Matowe, L. K., Pritchard, S. C., Collie-Duguid, E. S. R., & Reid, D. M. (1998) · Annals of Internal Medicine · doi:10.7326/0003-4819-129-9-199811010-00007 · Cited by 374

Differences in metabolism of sulfonamides predisposing to idiosyncratic toxicity

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Prevention of Fatal Postoperative pulmonary embolism by low doses of heparin. Reappraisal of results of international multicentre trial.

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Clinically Relevant Pharmacology of Selective Serotonin Reuptake Inhibitors: An Overview with Emphasis on Pharmacokinetics and Effects on Oxidative Drug Metabolism

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The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations

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Hepatotoxicity Associated With Isoniazid Preventive Therapy: A 7-Year Survey From a Public Health Tuberculosis Clinic

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Drug-Induced Cutaneous Reactions: A Report From the Boston Collaborative Drug Surveillance Program on 15 438 Consecutive Inpatients, 1975 to 1982

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CYP2C9 gene variants, drug dose, and bleeding risk in warfarin-treated patients: A HuGEnet™ systematic review and meta-analysis

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Pharmacogenetics of mephenytoin: A new drug hydroxylation polymorphism in man

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Hydroxylation polymorphisms of debrisoquine and mephenytoin in European populations

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Cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase (VKORC1) genotypes as determinants of acenocoumarol sensitivity

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Polymorphic organic anion transporting polypeptide 1B1 is a major determinant of repaglinide pharmacokinetics

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