Skip to main content
Top
Published in: International Journal of Clinical Pharmacy 1/2011

01-02-2011 | Research Article

From evidence based medicine to mechanism based medicine. Reviewing the role of pharmacogenetics

Authors: Bob Wilffert, Jesse Swen, Hans Mulder, Daan Touw, Anke-Hilse Maitland-Van der Zee, Vera Deneer, KNMP working group Pharmacogenetics

Published in: International Journal of Clinical Pharmacy | Issue 1/2011

Login to get access

Abstract

Aim of the review The translation of evidence based medicine to a specific patient presents a considerable challenge. We present by means of the examples nortriptyline, tramadol, clopidogrel, coumarins, abacavir and antipsychotics the discrepancy between available pharmacogenetic information and its implementation in daily clinical practice. Method Literature review. Results A mechanism based approach may be helpful to personalize medicine for the individual patient to which pharmacogenetics may contribute significantly. The lack of consistency in what we accept in bioequivalence and in pharmacogenetics of drug metabolising enzymes is discussed and illustrated with the example of nortriptyline. The impact of pharmacogenetics on examples like tramadol, clopidogrel, coumarins and abacavir is described. Also the present status of the polymorphisms of 5-HT2A and C receptors in antipsychotic-induced weight gain is presented as a pharmacodynamic example with until now a greater distance to clinical implementation. Conclusion The contribution of pharmacogenetics to tailor-made pharmacotherapy, which especially might be of value for patients deviating from the average, has not yet reached the position it seems to deserve.
Literature
1.
go back to reference de Graaf L. Force doctors to a joined consultation. Pharm Weekbl. 2009;45:8–11. de Graaf L. Force doctors to a joined consultation. Pharm Weekbl. 2009;45:8–11.
2.
go back to reference Huang SM, Temple R. Is this the drug or dose for you? Impact and consideration of ethnic factors in global drug development, regulatory review, and clinical practice. Clin Pharmacol Ther. 2008;84(3):287–94.PubMedCrossRef Huang SM, Temple R. Is this the drug or dose for you? Impact and consideration of ethnic factors in global drug development, regulatory review, and clinical practice. Clin Pharmacol Ther. 2008;84(3):287–94.PubMedCrossRef
3.
go back to reference Swen JJ, Wilting I, de Goede AL, Grandia L, Mulder H, Touw DJ, et al. Pharmacogenetics: from bench to byte. Clin Pharmacol Ther. 2008;83(5):781–7.PubMedCrossRef Swen JJ, Wilting I, de Goede AL, Grandia L, Mulder H, Touw DJ, et al. Pharmacogenetics: from bench to byte. Clin Pharmacol Ther. 2008;83(5):781–7.PubMedCrossRef
5.
go back to reference O’Connor AB, Dworkin RH. Treatment of neuropathic pain: an overview of recent guidelines. Am J Med. 2009;122(10 Suppl):S22–32.PubMedCrossRef O’Connor AB, Dworkin RH. Treatment of neuropathic pain: an overview of recent guidelines. Am J Med. 2009;122(10 Suppl):S22–32.PubMedCrossRef
6.
go back to reference Halling J, Weihe P, Brosen K. CYP2D6 polymorphism in relation to tramadol metabolism: a study of faroese patients. Ther Drug Monit. 2008;30(3):271–5.PubMedCrossRef Halling J, Weihe P, Brosen K. CYP2D6 polymorphism in relation to tramadol metabolism: a study of faroese patients. Ther Drug Monit. 2008;30(3):271–5.PubMedCrossRef
7.
go back to reference Frink MC, Hennies HH, Englberger W, Haurand M, Wilffert B. Influence of tramadol on neurotransmitter systems of the rat brain. Arzneimittelforschung. 1996;46(11):1029–36.PubMed Frink MC, Hennies HH, Englberger W, Haurand M, Wilffert B. Influence of tramadol on neurotransmitter systems of the rat brain. Arzneimittelforschung. 1996;46(11):1029–36.PubMed
8.
go back to reference Kirchheiner J, Keulen JT, Bauer S, Roots I, Brockmoller J. Effects of the CYP2D6 gene duplication on the pharmacokinetics and pharmacodynamics of tramadol. J Clin Psychopharmacol. 2008;28(1):78–83.PubMedCrossRef Kirchheiner J, Keulen JT, Bauer S, Roots I, Brockmoller J. Effects of the CYP2D6 gene duplication on the pharmacokinetics and pharmacodynamics of tramadol. J Clin Psychopharmacol. 2008;28(1):78–83.PubMedCrossRef
9.
go back to reference Wiviott SD, Braunwald E, McCabe CH, Montalescot G, Ruzyllo W, Gottlieb S, et al. Prasugrel versus clopidogrel in patients with acute coronary syndromes. N Engl J Med. 2007;357(20):2001–15.PubMedCrossRef Wiviott SD, Braunwald E, McCabe CH, Montalescot G, Ruzyllo W, Gottlieb S, et al. Prasugrel versus clopidogrel in patients with acute coronary syndromes. N Engl J Med. 2007;357(20):2001–15.PubMedCrossRef
10.
go back to reference Montalescot G, Wiviott SD, Braunwald E, Murphy SA, Gibson CM, McCabe CH, et al. Prasugrel compared with clopidogrel in patients undergoing percutaneous coronary intervention for ST-elevation myocardial infarction (TRITON-TIMI 38): double-blind, randomised controlled trial. Lancet. 2009;373(9665):723–31.PubMedCrossRef Montalescot G, Wiviott SD, Braunwald E, Murphy SA, Gibson CM, McCabe CH, et al. Prasugrel compared with clopidogrel in patients undergoing percutaneous coronary intervention for ST-elevation myocardial infarction (TRITON-TIMI 38): double-blind, randomised controlled trial. Lancet. 2009;373(9665):723–31.PubMedCrossRef
11.
go back to reference Mega JL, Close SL, Wiviott SD, Shen L, Hockett RD, Brandt JT, et al. Cytochrome p-450 polymorphisms and response to clopidogrel. N Engl J Med. 2009;360(4):354–62.PubMedCrossRef Mega JL, Close SL, Wiviott SD, Shen L, Hockett RD, Brandt JT, et al. Cytochrome p-450 polymorphisms and response to clopidogrel. N Engl J Med. 2009;360(4):354–62.PubMedCrossRef
12.
go back to reference Holmes DR, Jr., Dehmer GJ, Kaul S, Leifer D, O’Gara PT, Stein CM. ACCF/AHA clopidogrel clinical alert: approaches to the FDA “Boxed Warning”. A report of the American College of Cardiology Foundation Task force on clinical expert consensus documents and the American Heart Association. Circulation 2010. Holmes DR, Jr., Dehmer GJ, Kaul S, Leifer D, O’Gara PT, Stein CM. ACCF/AHA clopidogrel clinical alert: approaches to the FDA “Boxed Warning”. A report of the American College of Cardiology Foundation Task force on clinical expert consensus documents and the American Heart Association. Circulation 2010.
13.
go back to reference Roden DM, Altman RB, Benowitz NL, Flockhart DA, Giacomini KM, Johnson JA, et al. Pharmacogenomics: challenges and opportunities. Ann Intern Med. 2006;145(10):749–57.PubMedCrossRef Roden DM, Altman RB, Benowitz NL, Flockhart DA, Giacomini KM, Johnson JA, et al. Pharmacogenomics: challenges and opportunities. Ann Intern Med. 2006;145(10):749–57.PubMedCrossRef
14.
go back to reference Lieberman JA, Mailman RB, Duncan G, Sikich L, Chakos M, Nichols DE, et al. Serotonergic basis of antipsychotic drug effects in schizophrenia. Biol Psychiatry. 1998;44(11):1099–117.PubMedCrossRef Lieberman JA, Mailman RB, Duncan G, Sikich L, Chakos M, Nichols DE, et al. Serotonergic basis of antipsychotic drug effects in schizophrenia. Biol Psychiatry. 1998;44(11):1099–117.PubMedCrossRef
15.
go back to reference Reynolds GP, Templeman LA, Zhang ZJ. The role of 5-HT2C receptor polymorphisms in the pharmacogenetics of antipsychotic drug treatment. Prog Neuropsychopharmacol Biol Psychiatry. 2005;29(6):1021–8.PubMedCrossRef Reynolds GP, Templeman LA, Zhang ZJ. The role of 5-HT2C receptor polymorphisms in the pharmacogenetics of antipsychotic drug treatment. Prog Neuropsychopharmacol Biol Psychiatry. 2005;29(6):1021–8.PubMedCrossRef
16.
go back to reference Reynolds GP, Hill MJ, Kirk SL. The 5-HT2C receptor and antipsychoticinduced weight gain–mechanisms and genetics. J Psychopharmacol. 2006;20(4 Suppl):15–8.PubMedCrossRef Reynolds GP, Hill MJ, Kirk SL. The 5-HT2C receptor and antipsychoticinduced weight gain–mechanisms and genetics. J Psychopharmacol. 2006;20(4 Suppl):15–8.PubMedCrossRef
17.
go back to reference Arranz MJ, Munro J, Birkett J, Bolonna A, Mancama D, Sodhi M, et al. Pharmacogenetic prediction of clozapine response. Lancet. 2000;355(9215):1615–6.PubMedCrossRef Arranz MJ, Munro J, Birkett J, Bolonna A, Mancama D, Sodhi M, et al. Pharmacogenetic prediction of clozapine response. Lancet. 2000;355(9215):1615–6.PubMedCrossRef
18.
go back to reference De Luca V, Mueller DJ, de BA, Kennedy JL. Association of the HTR2C gene and antipsychotic induced weight gain: a meta-analysis. Int J Neuropsychopharmacol. 2007;10(5):697–704.PubMedCrossRef De Luca V, Mueller DJ, de BA, Kennedy JL. Association of the HTR2C gene and antipsychotic induced weight gain: a meta-analysis. Int J Neuropsychopharmacol. 2007;10(5):697–704.PubMedCrossRef
19.
go back to reference Mulder H, Franke B, van der van der-Beek AA, Arends J, Wilmink FW, Scheffer H, et al. The association between HTR2C gene polymorphisms and the metabolic syndrome in patients with schizophrenia. J Clin Psychopharmacol. 2007;27(4):338–43.PubMedCrossRef Mulder H, Franke B, van der van der-Beek AA, Arends J, Wilmink FW, Scheffer H, et al. The association between HTR2C gene polymorphisms and the metabolic syndrome in patients with schizophrenia. J Clin Psychopharmacol. 2007;27(4):338–43.PubMedCrossRef
20.
go back to reference Mulder H, Franke B, van der Beek AA, Arends J, Wilmink FW, Egberts AC, et al. The association between HTR2C polymorphisms and obesity in psychiatric patients using antipsychotics: a cross-sectional study. Pharmacogenomics J. 2007;7(5):318–24.PubMedCrossRef Mulder H, Franke B, van der Beek AA, Arends J, Wilmink FW, Egberts AC, et al. The association between HTR2C polymorphisms and obesity in psychiatric patients using antipsychotics: a cross-sectional study. Pharmacogenomics J. 2007;7(5):318–24.PubMedCrossRef
21.
go back to reference Mulder H, Cohen D, Scheffer H, Gispen-de WC, Arends J, Wilmink FW, et al. HTR2C gene polymorphisms and the metabolic syndrome in patients with schizophrenia: a replication study. J Clin Psychopharmacol. 2009;29(1):16–20.PubMedCrossRef Mulder H, Cohen D, Scheffer H, Gispen-de WC, Arends J, Wilmink FW, et al. HTR2C gene polymorphisms and the metabolic syndrome in patients with schizophrenia: a replication study. J Clin Psychopharmacol. 2009;29(1):16–20.PubMedCrossRef
22.
go back to reference Park YM, Cho JH, Kang SG, Choi JE, Lee SH, Kim L, et al. Lack of association between the -759C/T polymorphism of the 5-HT2C receptor gene and olanzapine-induced weight gain among Korean schizophrenic patients. J Clin Pharm Ther. 2008;33(1):55–60.PubMedCrossRef Park YM, Cho JH, Kang SG, Choi JE, Lee SH, Kim L, et al. Lack of association between the -759C/T polymorphism of the 5-HT2C receptor gene and olanzapine-induced weight gain among Korean schizophrenic patients. J Clin Pharm Ther. 2008;33(1):55–60.PubMedCrossRef
23.
go back to reference Reynolds GP, Zhang Z, Zhang X. Polymorphism of the promoter region of the serotonin 5-HT(2C) receptor gene and clozapine-induced weight gain. Am J Psychiatry. 2003;160(4):677–9.PubMedCrossRef Reynolds GP, Zhang Z, Zhang X. Polymorphism of the promoter region of the serotonin 5-HT(2C) receptor gene and clozapine-induced weight gain. Am J Psychiatry. 2003;160(4):677–9.PubMedCrossRef
24.
go back to reference Templeman LA, Reynolds GP, Arranz B, San L. Polymorphisms of the 5-HT2C receptor and leptin genes are associated with antipsychotic drug-induced weight gain in Caucasian subjects with a first-episode psychosis. Pharmacogenet Genomics. 2005;15(4):195–200.PubMedCrossRef Templeman LA, Reynolds GP, Arranz B, San L. Polymorphisms of the 5-HT2C receptor and leptin genes are associated with antipsychotic drug-induced weight gain in Caucasian subjects with a first-episode psychosis. Pharmacogenet Genomics. 2005;15(4):195–200.PubMedCrossRef
25.
go back to reference Theisen FM, Hinney A, Bromel T, Heinzel-Gutenbrunner M, Martin M, Krieg JC, et al. Lack of association between the -759C/T polymorphism of the 5-HT2C receptor gene and clozapine-induced weight gain among German schizophrenic individuals. Psychiatr Genet. 2004;14(3):139–42.PubMedCrossRef Theisen FM, Hinney A, Bromel T, Heinzel-Gutenbrunner M, Martin M, Krieg JC, et al. Lack of association between the -759C/T polymorphism of the 5-HT2C receptor gene and clozapine-induced weight gain among German schizophrenic individuals. Psychiatr Genet. 2004;14(3):139–42.PubMedCrossRef
26.
go back to reference Becquemont L. Pharmacogenomics of adverse drug reactions: practical applications and perspectives. Pharmacogenomics. 2009;10(6):961–9.PubMedCrossRef Becquemont L. Pharmacogenomics of adverse drug reactions: practical applications and perspectives. Pharmacogenomics. 2009;10(6):961–9.PubMedCrossRef
27.
go back to reference Daly AK, Donaldson PT, Bhatnagar P, Shen Y, Pe’er I, Floratos A, et al. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nat Genet. 2009;41(7):816–9.PubMedCrossRef Daly AK, Donaldson PT, Bhatnagar P, Shen Y, Pe’er I, Floratos A, et al. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nat Genet. 2009;41(7):816–9.PubMedCrossRef
28.
go back to reference Chung WH, Hung SI, Hong HS, Hsih MS, Yang LC, Ho HC, et al. Medical genetics: a marker for Stevens-Johnson syndrome. Nature. 2004;428(6982):486.PubMedCrossRef Chung WH, Hung SI, Hong HS, Hsih MS, Yang LC, Ho HC, et al. Medical genetics: a marker for Stevens-Johnson syndrome. Nature. 2004;428(6982):486.PubMedCrossRef
29.
go back to reference Mallal S, Phillips E, Carosi G, Molina JM, Workman C, Tomazic J, et al. HLA-B*5701 screening for hypersensitivity to abacavir. N Engl J Med. 2008;358(6):568–79.PubMedCrossRef Mallal S, Phillips E, Carosi G, Molina JM, Workman C, Tomazic J, et al. HLA-B*5701 screening for hypersensitivity to abacavir. N Engl J Med. 2008;358(6):568–79.PubMedCrossRef
30.
go back to reference Meyer UA. Pharmacogenetics–five decades of therapeutic lessons from genetic diversity. Nat Rev Genet. 2004;5(9):669–76.PubMedCrossRef Meyer UA. Pharmacogenetics–five decades of therapeutic lessons from genetic diversity. Nat Rev Genet. 2004;5(9):669–76.PubMedCrossRef
31.
go back to reference van Schie RM, Cascorbi I, Maitland-van der Zee AH. Conference scene: pharmacogenomics at the second PharmSciFair 2009: adverse drug reactions and clinical implementation. Pharmacogenomics. 2009;10(9):1389–91.PubMedCrossRef van Schie RM, Cascorbi I, Maitland-van der Zee AH. Conference scene: pharmacogenomics at the second PharmSciFair 2009: adverse drug reactions and clinical implementation. Pharmacogenomics. 2009;10(9):1389–91.PubMedCrossRef
32.
go back to reference Wilms EB, Veldkamp RF, van ME, Touw DJ. Partial resistance to acenocoumarol and phenprocoumon caused by enzyme polymorphism. Ned Tijdschr Geneeskd. 2006;150(38):2095–8.PubMed Wilms EB, Veldkamp RF, van ME, Touw DJ. Partial resistance to acenocoumarol and phenprocoumon caused by enzyme polymorphism. Ned Tijdschr Geneeskd. 2006;150(38):2095–8.PubMed
33.
go back to reference Tan GM, Wu E, Lam YY, Yan BP. Role of warfarin pharmacogenetic testing in clinical practice. Pharmacogenomics. 2010;11(3):439–48.PubMedCrossRef Tan GM, Wu E, Lam YY, Yan BP. Role of warfarin pharmacogenetic testing in clinical practice. Pharmacogenomics. 2010;11(3):439–48.PubMedCrossRef
34.
go back to reference D’Andrea G, D’Ambrosio RL, Di PP, Chetta M, Santacroce R, Brancaccio V, et al. A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin. Blood. 2005;105(2):645–9.PubMedCrossRef D’Andrea G, D’Ambrosio RL, Di PP, Chetta M, Santacroce R, Brancaccio V, et al. A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin. Blood. 2005;105(2):645–9.PubMedCrossRef
35.
go back to reference Li T, Chang CY, Jin DY, Lin PJ, Khvorova A, Stafford DW. Identification of the gene for vitamin K epoxide reductase. Nature. 2004;427(6974):541–4.PubMedCrossRef Li T, Chang CY, Jin DY, Lin PJ, Khvorova A, Stafford DW. Identification of the gene for vitamin K epoxide reductase. Nature. 2004;427(6974):541–4.PubMedCrossRef
36.
go back to reference Rieder MJ, Reiner AP, Gage BF, Nickerson DA, Eby CS, McLeod HL, et al. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med. 2005;352(22):2285–93.PubMedCrossRef Rieder MJ, Reiner AP, Gage BF, Nickerson DA, Eby CS, McLeod HL, et al. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med. 2005;352(22):2285–93.PubMedCrossRef
37.
go back to reference Rost S, Fregin A, Ivaskevicius V, Conzelmann E, Hortnagel K, Pelz HJ, et al. Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature. 2004;427(6974):537–41.PubMedCrossRef Rost S, Fregin A, Ivaskevicius V, Conzelmann E, Hortnagel K, Pelz HJ, et al. Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature. 2004;427(6974):537–41.PubMedCrossRef
38.
go back to reference Klein TE, Altman RB, Eriksson N, Gage BF, Kimmel SE, Lee MT, et al. Estimation of the warfarin dose with clinical and pharmacogenetic data. N Engl J Med. 2009;360(8):753–64.PubMedCrossRef Klein TE, Altman RB, Eriksson N, Gage BF, Kimmel SE, Lee MT, et al. Estimation of the warfarin dose with clinical and pharmacogenetic data. N Engl J Med. 2009;360(8):753–64.PubMedCrossRef
39.
go back to reference Woodcock J, Lesko LJ. Pharmacogenetics–tailoring treatment for the outliers. N Engl J Med. 2009;360(8):811–3.PubMedCrossRef Woodcock J, Lesko LJ. Pharmacogenetics–tailoring treatment for the outliers. N Engl J Med. 2009;360(8):811–3.PubMedCrossRef
40.
go back to reference Swen JJ, Huizinga TW, Gelderblom H, de Vries EG, Assendelft WJ, Kirchheiner J, et al. Translating pharmacogenomics: challenges on the road to the clinic. PLoS Med. 2007;4(8):e209.PubMedCrossRef Swen JJ, Huizinga TW, Gelderblom H, de Vries EG, Assendelft WJ, Kirchheiner J, et al. Translating pharmacogenomics: challenges on the road to the clinic. PLoS Med. 2007;4(8):e209.PubMedCrossRef
41.
go back to reference Williams JA, Andersson T, Andersson TB, Blanchard R, Behm MO, Cohen N, et al. PhRMA white paper on ADME pharmacogenomics. J Clin Pharmacol. 2008;48(7):849–89.PubMedCrossRef Williams JA, Andersson T, Andersson TB, Blanchard R, Behm MO, Cohen N, et al. PhRMA white paper on ADME pharmacogenomics. J Clin Pharmacol. 2008;48(7):849–89.PubMedCrossRef
42.
go back to reference Check HE. Genome sequencing: the third generation. Nature. 2009;457(7231):768–9.CrossRef Check HE. Genome sequencing: the third generation. Nature. 2009;457(7231):768–9.CrossRef
43.
go back to reference Abdel-Rahman SM, Leeder JS, Wilson JT, Gaedigk A, Gotschall RR, Medve R, et al. Concordance between tramadol and dextromethorphan parent/metabolite ratios: the influence of CYP2D6 and non-CYP2D6 pathways on biotransformation. J Clin Pharmacol. 2002;42(1):24–9.PubMedCrossRef Abdel-Rahman SM, Leeder JS, Wilson JT, Gaedigk A, Gotschall RR, Medve R, et al. Concordance between tramadol and dextromethorphan parent/metabolite ratios: the influence of CYP2D6 and non-CYP2D6 pathways on biotransformation. J Clin Pharmacol. 2002;42(1):24–9.PubMedCrossRef
44.
go back to reference Borlak J, Hermann R, Erb K, Thum T. A rapid and simple CYP2D6 genotyping assay–case study with the analgetic tramadol. Metabolism. 2003;52(11):1439–43.PubMedCrossRef Borlak J, Hermann R, Erb K, Thum T. A rapid and simple CYP2D6 genotyping assay–case study with the analgetic tramadol. Metabolism. 2003;52(11):1439–43.PubMedCrossRef
45.
go back to reference Enggaard TP, Poulsen L, rendt-Nielsen L, Brosen K, Ossig J, Sindrup SH. The analgesic effect of tramadol after intravenous injection in healthy volunteers in relation to CYP2D6. Anesth Analg. 2006;102(1):146–50.PubMedCrossRef Enggaard TP, Poulsen L, rendt-Nielsen L, Brosen K, Ossig J, Sindrup SH. The analgesic effect of tramadol after intravenous injection in healthy volunteers in relation to CYP2D6. Anesth Analg. 2006;102(1):146–50.PubMedCrossRef
46.
go back to reference Paar WD, Poche S, Gerloff J, Dengler HJ. Polymorphic CYP2D6 mediates O-demethylation of the opioid analgesic tramadol. Eur J Clin Pharmacol. 1997;53(3–4):235–9.PubMedCrossRef Paar WD, Poche S, Gerloff J, Dengler HJ. Polymorphic CYP2D6 mediates O-demethylation of the opioid analgesic tramadol. Eur J Clin Pharmacol. 1997;53(3–4):235–9.PubMedCrossRef
47.
go back to reference Poulsen L, rendt-Nielsen L, Brosen K, Sindrup SH. The hypoalgesic effect of tramadol in relation to CYP2D6. Clin Pharmacol Ther. 1996;60(6):636–44.PubMedCrossRef Poulsen L, rendt-Nielsen L, Brosen K, Sindrup SH. The hypoalgesic effect of tramadol in relation to CYP2D6. Clin Pharmacol Ther. 1996;60(6):636–44.PubMedCrossRef
48.
go back to reference Stamer UM, Lehnen K, Hothker F, Bayerer B, Wolf S, Hoeft A, et al. Impact of CYP2D6 genotype on postoperative tramadol analgesia. Pain. 2003;105(1–2):231–8.PubMedCrossRef Stamer UM, Lehnen K, Hothker F, Bayerer B, Wolf S, Hoeft A, et al. Impact of CYP2D6 genotype on postoperative tramadol analgesia. Pain. 2003;105(1–2):231–8.PubMedCrossRef
49.
go back to reference Gan SH, Ismail R, Wan Adnan WA, Wan Z. Correlation of tramadol pharmacokinetics and CYP2D6*10 genotype in Malaysian subjects. J Pharm Biomed Anal. 2002;30(2):189–95.PubMedCrossRef Gan SH, Ismail R, Wan Adnan WA, Wan Z. Correlation of tramadol pharmacokinetics and CYP2D6*10 genotype in Malaysian subjects. J Pharm Biomed Anal. 2002;30(2):189–95.PubMedCrossRef
50.
go back to reference Gleason PP, Frye RF, O’Toole T. Debilitating reaction following the initial dose of tramadol. Ann Pharmacother. 1997;31(10):1150–2.PubMed Gleason PP, Frye RF, O’Toole T. Debilitating reaction following the initial dose of tramadol. Ann Pharmacother. 1997;31(10):1150–2.PubMed
51.
go back to reference Aynacioglu AS, Brockmoller J, Bauer S, Sachse C, Guzelbey P, Ongen Z, et al. Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin. Br J Clin Pharmacol. 1999;48(3):409–15.PubMedCrossRef Aynacioglu AS, Brockmoller J, Bauer S, Sachse C, Guzelbey P, Ongen Z, et al. Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin. Br J Clin Pharmacol. 1999;48(3):409–15.PubMedCrossRef
52.
go back to reference Caraco Y, Muszkat M, Wood AJ. Phenytoin metabolic ratio: a putative marker of CYP2C9 activity in vivo. Pharmacogenetics. 2001;11(7):587–96.PubMedCrossRef Caraco Y, Muszkat M, Wood AJ. Phenytoin metabolic ratio: a putative marker of CYP2C9 activity in vivo. Pharmacogenetics. 2001;11(7):587–96.PubMedCrossRef
53.
go back to reference Hennessy S, Leonard CE, Freeman CP, Metlay JP, Chu X, Strom BL, et al. CYP2C9, CYP2C19, and ABCB1 genotype and hospitalization for phenytoin toxicity. J Clin Pharmacol. 2009;49(12):1483–7.PubMedCrossRef Hennessy S, Leonard CE, Freeman CP, Metlay JP, Chu X, Strom BL, et al. CYP2C9, CYP2C19, and ABCB1 genotype and hospitalization for phenytoin toxicity. J Clin Pharmacol. 2009;49(12):1483–7.PubMedCrossRef
54.
go back to reference Kerb R, Aynacioglu AS, Brockmoller J, Schlagenhaufer R, Bauer S, Szekeres T, et al. The predictive value of MDR1, CYP2C9, and CYP2C19 polymorphisms for phenytoin plasma levels. Pharmacogenomics J. 2001;1(3):204–10.PubMedCrossRef Kerb R, Aynacioglu AS, Brockmoller J, Schlagenhaufer R, Bauer S, Szekeres T, et al. The predictive value of MDR1, CYP2C9, and CYP2C19 polymorphisms for phenytoin plasma levels. Pharmacogenomics J. 2001;1(3):204–10.PubMedCrossRef
55.
go back to reference Rosemary J, Surendiran A, Rajan S, Shashindran CH, Adithan C. Influence of the CYP2C9 AND CYP2C19 polymorphisms on phenytoin hydroxylation in healthy individuals from south India. Indian J Med Res. 2006;123(5):665–70.PubMed Rosemary J, Surendiran A, Rajan S, Shashindran CH, Adithan C. Influence of the CYP2C9 AND CYP2C19 polymorphisms on phenytoin hydroxylation in healthy individuals from south India. Indian J Med Res. 2006;123(5):665–70.PubMed
56.
go back to reference Tate SK, Depondt C, Sisodiya SM, Cavalleri GL, Schorge S, Soranzo N, et al. Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. Proc Natl Acad Sci U S A. 2005;102(15):5507–12.PubMedCrossRef Tate SK, Depondt C, Sisodiya SM, Cavalleri GL, Schorge S, Soranzo N, et al. Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. Proc Natl Acad Sci U S A. 2005;102(15):5507–12.PubMedCrossRef
57.
go back to reference van der Weide WJ, Steijns LS, van Weelden MJ, de HK. The effect of genetic polymorphism of cytochrome P450 CYP2C9 on phenytoin dose requirement. Pharmacogenetics. 2001;11(4):287–91.PubMedCrossRef van der Weide WJ, Steijns LS, van Weelden MJ, de HK. The effect of genetic polymorphism of cytochrome P450 CYP2C9 on phenytoin dose requirement. Pharmacogenetics. 2001;11(4):287–91.PubMedCrossRef
58.
go back to reference Hashimoto Y, Otsuki Y, Odani A, Takano M, Hattori H, Furusho K, et al. Effect of CYP2C polymorphisms on the pharmacokinetics of phenytoin in Japanese patients with epilepsy. Biol Pharm Bull. 1996;19(8):1103–5.PubMedCrossRef Hashimoto Y, Otsuki Y, Odani A, Takano M, Hattori H, Furusho K, et al. Effect of CYP2C polymorphisms on the pharmacokinetics of phenytoin in Japanese patients with epilepsy. Biol Pharm Bull. 1996;19(8):1103–5.PubMedCrossRef
59.
go back to reference Hung CC, Lin CJ, Chen CC, Chang CJ, Liou HH. Dosage recommendation of phenytoin for patients with epilepsy with different CYP2C9/CYP2C19 polymorphisms. Ther Drug Monit. 2004;26(5):534–40.PubMedCrossRef Hung CC, Lin CJ, Chen CC, Chang CJ, Liou HH. Dosage recommendation of phenytoin for patients with epilepsy with different CYP2C9/CYP2C19 polymorphisms. Ther Drug Monit. 2004;26(5):534–40.PubMedCrossRef
60.
go back to reference Lee SY, Lee ST, Kim JW. Contributions of CYP2C9/CYP2C19 genotypes and drug interaction to the phenytoin treatment in the Korean epileptic patients in the clinical setting. J Biochem Mol Biol. 2007;40(3):448–52.PubMedCrossRef Lee SY, Lee ST, Kim JW. Contributions of CYP2C9/CYP2C19 genotypes and drug interaction to the phenytoin treatment in the Korean epileptic patients in the clinical setting. J Biochem Mol Biol. 2007;40(3):448–52.PubMedCrossRef
61.
go back to reference Mamiya K, Ieiri I, Shimamoto J, Yukawa E, Imai J, Ninomiya H, et al. The effects of genetic polymorphisms of CYP2C9 and CYP2C19 on phenytoin metabolism in Japanese adult patients with epilepsy: studies in stereoselective hydroxylation and population pharmacokinetics. Epilepsia. 1998;39(12):1317–23.PubMedCrossRef Mamiya K, Ieiri I, Shimamoto J, Yukawa E, Imai J, Ninomiya H, et al. The effects of genetic polymorphisms of CYP2C9 and CYP2C19 on phenytoin metabolism in Japanese adult patients with epilepsy: studies in stereoselective hydroxylation and population pharmacokinetics. Epilepsia. 1998;39(12):1317–23.PubMedCrossRef
62.
go back to reference McCluggage LK, Voils SA, Bullock MR. Phenytoin toxicity due to genetic polymorphism. Neurocrit Care. 2009;10(2):222–4.PubMedCrossRef McCluggage LK, Voils SA, Bullock MR. Phenytoin toxicity due to genetic polymorphism. Neurocrit Care. 2009;10(2):222–4.PubMedCrossRef
63.
go back to reference Ninomiya H, Mamiya K, Matsuo S, Ieiri I, Higuchi S, Tashiro N. Genetic polymorphism of the CYP2C subfamily and excessive serum phenytoin concentration with central nervous system intoxication. Ther Drug Monit. 2000;22(2):230–2.PubMedCrossRef Ninomiya H, Mamiya K, Matsuo S, Ieiri I, Higuchi S, Tashiro N. Genetic polymorphism of the CYP2C subfamily and excessive serum phenytoin concentration with central nervous system intoxication. Ther Drug Monit. 2000;22(2):230–2.PubMedCrossRef
64.
go back to reference Odani A, Hashimoto Y, Otsuki Y, Uwai Y, Hattori H, Furusho K, et al. Genetic polymorphism of the CYP2C subfamily and its effect on the pharmacokinetics of phenytoin in Japanese patients with epilepsy. Clin Pharmacol Ther. 1997;62(3):287–92.PubMedCrossRef Odani A, Hashimoto Y, Otsuki Y, Uwai Y, Hattori H, Furusho K, et al. Genetic polymorphism of the CYP2C subfamily and its effect on the pharmacokinetics of phenytoin in Japanese patients with epilepsy. Clin Pharmacol Ther. 1997;62(3):287–92.PubMedCrossRef
65.
go back to reference Soga Y, Nishimura F, Ohtsuka Y, Araki H, Iwamoto Y, Naruishi H, et al. CYP2C polymorphisms, phenytoin metabolism and gingival overgrowth in epileptic subjects. Life Sci. 2004;74(7):827–34.PubMedCrossRef Soga Y, Nishimura F, Ohtsuka Y, Araki H, Iwamoto Y, Naruishi H, et al. CYP2C polymorphisms, phenytoin metabolism and gingival overgrowth in epileptic subjects. Life Sci. 2004;74(7):827–34.PubMedCrossRef
66.
go back to reference Brandolese R, Scordo MG, Spina E, Gusella M, Padrini R. Severe phenytoin intoxication in a subject homozygous for CYP2C9*3. Clin Pharmacol Ther. 2001;70(4):391–4.PubMed Brandolese R, Scordo MG, Spina E, Gusella M, Padrini R. Severe phenytoin intoxication in a subject homozygous for CYP2C9*3. Clin Pharmacol Ther. 2001;70(4):391–4.PubMed
67.
go back to reference Jose L, Binila C, Chandy SJ, Mathews JE, Mathews KP. Acenocoumarol and phenytoin toxicity in the presence of CYP2C9 mutation. J Assoc Physicians India. 2008;56:250–2.PubMed Jose L, Binila C, Chandy SJ, Mathews JE, Mathews KP. Acenocoumarol and phenytoin toxicity in the presence of CYP2C9 mutation. J Assoc Physicians India. 2008;56:250–2.PubMed
68.
go back to reference Kidd RS, Straughn AB, Meyer MC, Blaisdell J, Goldstein JA, Dalton JT. Pharmacokinetics of chlorpheniramine, phenytoin, glipizide and nifedipine in an individual homozygous for the CYP2C9*3 allele. Pharmacogenetics. 1999;9(1):71–80.PubMedCrossRef Kidd RS, Straughn AB, Meyer MC, Blaisdell J, Goldstein JA, Dalton JT. Pharmacokinetics of chlorpheniramine, phenytoin, glipizide and nifedipine in an individual homozygous for the CYP2C9*3 allele. Pharmacogenetics. 1999;9(1):71–80.PubMedCrossRef
69.
go back to reference Ramasamy K, Narayan SK, Chanolean S, Chandrasekaran A. Severe phenytoin toxicity in a CYP2C9*3*3 homozygous mutant from India. Neurol India. 2007;55(4):408–9.PubMedCrossRef Ramasamy K, Narayan SK, Chanolean S, Chandrasekaran A. Severe phenytoin toxicity in a CYP2C9*3*3 homozygous mutant from India. Neurol India. 2007;55(4):408–9.PubMedCrossRef
70.
go back to reference Baumann P, Nil R, Souche A, Montaldi S, Baettig D, Lambert S, et al. A double-blind, placebo-controlled study of citalopram with and without lithium in the treatment of therapy-resistant depressive patients: a clinical, pharmacokinetic, and pharmacogenetic investigation. J Clin Psychopharmacol. 1996;16(4):307–14.PubMedCrossRef Baumann P, Nil R, Souche A, Montaldi S, Baettig D, Lambert S, et al. A double-blind, placebo-controlled study of citalopram with and without lithium in the treatment of therapy-resistant depressive patients: a clinical, pharmacokinetic, and pharmacogenetic investigation. J Clin Psychopharmacol. 1996;16(4):307–14.PubMedCrossRef
71.
go back to reference Herrlin K, Yasui-Furukori N, Tybring G, Widen J, Gustafsson LL, Bertilsson L. Metabolism of citalopram enantiomers in CYP2C19/CYP2D6 phenotyped panels of healthy Swedes. Br J Clin Pharmacol. 2003;56(4):415–21.PubMedCrossRef Herrlin K, Yasui-Furukori N, Tybring G, Widen J, Gustafsson LL, Bertilsson L. Metabolism of citalopram enantiomers in CYP2C19/CYP2D6 phenotyped panels of healthy Swedes. Br J Clin Pharmacol. 2003;56(4):415–21.PubMedCrossRef
72.
go back to reference Peters EJ, Slager SL, Kraft JB, Jenkins GD, Reinalda MS, McGrath PJ, et al. Pharmacokinetic genes do not influence response or tolerance to citalopram in the STAR*D sample. PLoS One. 2008;3(4):e1872.PubMedCrossRef Peters EJ, Slager SL, Kraft JB, Jenkins GD, Reinalda MS, McGrath PJ, et al. Pharmacokinetic genes do not influence response or tolerance to citalopram in the STAR*D sample. PLoS One. 2008;3(4):e1872.PubMedCrossRef
73.
go back to reference Rudberg I, Mohebi B, Hermann M, Refsum H, Molden E. Impact of the ultrarapid CYP2C19*17 allele on serum concentration of escitalopram in psychiatric patients. Clin Pharmacol Ther. 2008;83(2):322–7.PubMedCrossRef Rudberg I, Mohebi B, Hermann M, Refsum H, Molden E. Impact of the ultrarapid CYP2C19*17 allele on serum concentration of escitalopram in psychiatric patients. Clin Pharmacol Ther. 2008;83(2):322–7.PubMedCrossRef
74.
go back to reference Sindrup SH, Brosen K, Hansen MG, Aaes-Jorgensen T, Overo KF, Gram LF. Pharmacokinetics of citalopram in relation to the sparteine and the mephenytoin oxidation polymorphisms. Ther Drug Monit. 1993;15(1):11–7.PubMedCrossRef Sindrup SH, Brosen K, Hansen MG, Aaes-Jorgensen T, Overo KF, Gram LF. Pharmacokinetics of citalopram in relation to the sparteine and the mephenytoin oxidation polymorphisms. Ther Drug Monit. 1993;15(1):11–7.PubMedCrossRef
75.
go back to reference Yin OQ, Wing YK, Cheung Y, Wang ZJ, Lam SL, Chiu HF, et al. Phenotype-genotype relationship and clinical effects of citalopram in Chinese patients. J Clin Psychopharmacol. 2006;26(4):367–72.PubMedCrossRef Yin OQ, Wing YK, Cheung Y, Wang ZJ, Lam SL, Chiu HF, et al. Phenotype-genotype relationship and clinical effects of citalopram in Chinese patients. J Clin Psychopharmacol. 2006;26(4):367–72.PubMedCrossRef
76.
go back to reference Yu BN, Chen GL, He N, Ouyang DS, Chen XP, Liu ZQ, et al. Pharmacokinetics of citalopram in relation to genetic polymorphism of CYP2C19. Drug Metab Dispos. 2003;31(10):1255–9.PubMedCrossRef Yu BN, Chen GL, He N, Ouyang DS, Chen XP, Liu ZQ, et al. Pharmacokinetics of citalopram in relation to genetic polymorphism of CYP2C19. Drug Metab Dispos. 2003;31(10):1255–9.PubMedCrossRef
77.
go back to reference Rudberg I, Hendset M, Uthus LH, Molden E, Refsum H. Heterozygous mutation in CYP2C19 significantly increases the concentration/dose ratio of racemic citalopram and escitalopram (S-citalopram). Ther Drug Monit. 2006;28(1):102–5.PubMedCrossRef Rudberg I, Hendset M, Uthus LH, Molden E, Refsum H. Heterozygous mutation in CYP2C19 significantly increases the concentration/dose ratio of racemic citalopram and escitalopram (S-citalopram). Ther Drug Monit. 2006;28(1):102–5.PubMedCrossRef
78.
go back to reference Ohlsson RS, Mwinyi J, Andersson M, Baldwin RM, Pedersen RS, Sim SC, et al. Kinetics of omeprazole and escitalopram in relation to the CYP2C19*17 allele in healthy subjects. Eur J Clin Pharmacol. 2008;64(12):1175–9.CrossRef Ohlsson RS, Mwinyi J, Andersson M, Baldwin RM, Pedersen RS, Sim SC, et al. Kinetics of omeprazole and escitalopram in relation to the CYP2C19*17 allele in healthy subjects. Eur J Clin Pharmacol. 2008;64(12):1175–9.CrossRef
Metadata
Title
From evidence based medicine to mechanism based medicine. Reviewing the role of pharmacogenetics
Authors
Bob Wilffert
Jesse Swen
Hans Mulder
Daan Touw
Anke-Hilse Maitland-Van der Zee
Vera Deneer
KNMP working group Pharmacogenetics
Publication date
01-02-2011
Publisher
Springer Netherlands
Published in
International Journal of Clinical Pharmacy / Issue 1/2011
Print ISSN: 2210-7703
Electronic ISSN: 2210-7711
DOI
https://doi.org/10.1007/s11096-011-9485-2

Other articles of this Issue 1/2011

International Journal of Clinical Pharmacy 1/2011 Go to the issue