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Erschienen 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

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

Erschienen in: International Journal of Clinical Pharmacy | Ausgabe 1/2011

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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.
Literatur
1.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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.
Zurück zum Zitat 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
Metadaten
Titel
From evidence based medicine to mechanism based medicine. Reviewing the role of pharmacogenetics
verfasst von
Bob Wilffert
Jesse Swen
Hans Mulder
Daan Touw
Anke-Hilse Maitland-Van der Zee
Vera Deneer
KNMP working group Pharmacogenetics
Publikationsdatum
01.02.2011
Verlag
Springer Netherlands
Erschienen in
International Journal of Clinical Pharmacy / Ausgabe 1/2011
Print ISSN: 2210-7703
Elektronische ISSN: 2210-7711
DOI
https://doi.org/10.1007/s11096-011-9485-2

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