Characterization of single nucleotide polymorphisms of cytochrome P450 in an Australian deceased sample

Current Drug Metabolism

Volumn 13, Issue 5, 2012, Pages 679-692

  Pilgrim, Jennifer L ^a   Ruiz, Yarimar ^b   Gesteira, Alejandro ^c   Cruz, Raquel ^d   Gerostamoulos, Dimitri ^a   Carracedo, Angel ^b,c,d   Drummer, Olaf H ^a  

^a MONASH UNIVERSITY   (Australia)

^b UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^c GenPoB Research Group   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

Adverse drug reaction; CYP450; Fatalities; Poor metabolizer; Serotonergic drugs

Indexed keywords

3,4 METHYLENEDIOXYMETHAMPHETAMINE; ALCOHOL; ALPRAZOLAM; CARBOXYHEMOGLOBIN; CHLORPROMAZINE; CITALOPRAM; CODEINE; CYPROHEPTADINE; CYTOCHROME P450; DIAMORPHINE; DIAZEPAM; DOXYLAMINE; FLUOXETINE; METHADONE; MIRTAZAPINE; MOCLOBEMIDE; MORPHINE; NORDAZEPAM; NORFLUOXETINE; OXYCODONE; PARACETAMOL; PAROXETINE; QUININE; SERTRALINE; TEMAZEPAM; TRAMADOL; UNINDEXED DRUG; VALPROIC ACID; VENLAFAXINE; ZOLPIDEM;

ADULT; AGED; ARTICLE; AUSTRALIA; CAUSE OF DEATH; DEATH; DRUG METABOLISM; DRUG SCREENING; ENZYME ACTIVITY; FEMALE; GENE EXPRESSION PROFILING; GENETIC PREDISPOSITION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; SINGLE NUCLEOTIDE POLYMORPHISM; TOXICOLOGY;

EID: 84861844537     PISSN: 13892002     EISSN: 18755453     Source Type: Journal    
DOI: 10.2174/1389200211209050679     Document Type: Article

References (57)

1. Cascorbi, I. Pharmacogenetics of cytochrome p4502D6: genetic background and clinical implication. Eur J Clin Invest, 2003. 33 Suppl 2: p. 17-22.
2. Zanger, U.M.; Turpeinen, M.; Klein, K.; Schwab, M. Functional pharmacogenetics/genomics of human cytochromes P450 involved in drug biotransformation. Anal Bioanal Chem, 2008. 392(6): p. 1093-108.
3. Ingelman-Sundberg, M.; Sim, S.C.; Gomez, A.; Rodriguez-Antona, C. Influence of cytochrome P450 polymorphisms on drug therapies: pharmacogenetic, pharmacoepigenetic and clinical aspects. Pharmacol Ther, 2007. 116(3): p. 496-526.
4. Menoyo, A.; del Rio, E.; Baiget, M. Characterization of variant alleles of cytochrome CYP2D6 in a Spanish population. Cell Biochem Funct, 2006. 24(5): p. 381-5.
5. Pilgrim, J.L., Gerostamoulos, D. & Drummer, O. H. Review: pharmacogenetic aspects of the effect of cytochrome P450 polymorphisms on serotonergic drug metabolism, response, interactions, and adverse effects. Forensic Sci Med Pathol, 2010. 7(2): p. 162-184.
6. Buzkova, H.; Pechandova, K.; Slanar, O.; Perlik, F. Frequency of single nucleotide polymorphisms of CYP2D6 in the Czech population. Cell Biochem Funct, 2008. 26(1): p. 76-81.
7. Druid, H.; Holmgren, P.; Carlsson, B.; Ahlner, J. Cytochrome P450 2D6 (CYP2D6) genotyping on postmortem blood as a supplementary tool for interpretation of forensic toxicological results. Forensic Sci Int, 1999. 99(1): p. 25-34.
8. Peart, G.F.; Boutagy, J.; Shenfield, G.M. Debrisoquine oxidation in an Australian population. Br J Clin Pharmacol, 1986. 21(5): p. 465-71.
9. Australian Bureau of Statistics. 20680- Ancestry by country of birth of parents- Time series statistics (2001, 2006 Census years) - Australia. 2007, Commonwealth of Victoria.
10. Drummer, O.H. Postmortem toxicology of drugs of abuse. Forensic Sci Int, 2004. 142(2-3): p. 101-13.
11. Drummer, O.H.; Gerostamoulos, J. Postmortem drug analysis: analytical and toxicological aspects. Ther Drug Monit, 2002. 24(2): p. 199-209.
12. Drummer, O.H.; Horomidis, S.; Kourtis, S.; Syrjanen, M.L.; Tippett, P. Capillary gas chromatographic drug screen for use in forensic toxicology. J Anal Toxicol, 1994. 18(3): p. 134-8.
13. Walsh, P.S.; Metzger, D.A.; Higuchi, R. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. Biotechniques, 1991. 10(4): p. 506-13.
14. Oeth, P.; Beaulieu, M.; Park, C.; Kosman, D.; del Mistro, G.; van den Boom, D.; Jurinke, C. iPLEXTM assay: increased plexing efficiency and flexibility for massarray system through single base primer extension with mass-modified terminators, Sequenom Application Note. 2005.
15. Vallone, P.M.; Butler, J.M. AutoDimer: a screening tool for primer-dimer and hairpin structures. Biotechniques, 2004. 37(2): p. 226-31.
16. de la Torre, R.; Farre, M.; Roset, P.N.; Pizarro, N.; Abanades, S.; Segura, M.; Segura, J.; Cami, J. Human pharmacology of MDMA: pharmacokinetics, metabolism, and disposition. Ther Drug Monit, 2004. 26(2): p. 137-44.
17. Rogers, J.F.; Nafziger, A.N.; Bertino, J.S.J. Pharmacogenetics affects dosing, efficacy, and toxicity of cytochrome P450- metabolized drugs. Am J Med, 2002. 113(9): p. 746-50.
18. Weschules, D.J.; Bain, K.T.; Richeimer, S. Actual and potential drug interactions associated with methadone. Pain Med, 2008. 9(3): p. 315-44.
19. Sachse, C.; Brockmoller, J.; Bauer, S.; Roots, I. Cytochrome P450 2D6 variants in a Caucasian population: allele frequencies and phenotypic consequences. Am J Hum Genet, 1997. 60(2): p. 284-95.
20. Koski, A.; Sistonen, J.; Ojanpera, I.; Gergov, M.; Vuori, E.; Sajantila, A. CYP2D6 and CYP2C19 genotypes and amitriptyline metabolite ratios in a series of medicolegal autopsies. Forensic Sci Int, 2006. 158(2-3): p. 177-83.
21. Levo, A.; Koski, A.; Ojanpera, I.; Vuori, E.; Sajantila, A. Postmortem SNP analysis of CYP2D6 gene reveals correlation between genotype and opioid drug (tramadol) metabolite ratios in blood. Forensic Sci Int, 2003. 135(1): p. 9-15.
22. Zackrisson, A.L.; Lindblom, B.; Ahlner, J. High frequency of occurrence of CYP2D6 gene duplication/multiduplication indicating ultrarapid metabolism among suicide cases. Clin Pharmacol Ther, 2010. 88(3): p. 354-9.
23. Tamminga, W.J.; Wemer, J.; Oosterhuis, B.; de Zeeuw, R.A.; de Leij, L.F.; Jonkman, J.H. The prevalence of CYP2D6 and CYP2C19 genotypes in a population of healthy Dutch volunteers. Eur J Clin Pharmacol, 2001. 57(10): p. 717-22.
24. Griese, E.U.; Ilett, K.F.; Kitteringham, N.R.; Eichelbaum, M.; Powell, H.; Spargo, R.M.; LeSouef, P.N.; Musk, A.W.; Minchin, R.F. Allele and genotype frequencies of polymorphic cytochromes P4502D6, 2C19 and 2E1 in aborigines from western Australia. Pharmacogenetics, 2001. 11(1): p. 69-76.
25. Danielson, P.B. The cytochrome P450 superfamily: biochemistry, evolution and drug metabolism in humans. Curr Drug Metab, 2002. 3(6): p. 561-97.
26. Zhou, S.F. Polymorphism of human cytochrome P450 2D6 and its clinical significance: Part I. Clin Pharmacokinet, 2009. 48(11): p. 689-723.
27. Ingelman-Sundberg, M. Genetic polymorphisms of cytochrome P450 2D6 (CYP2D6): clinical consequences, evolutionary aspects and functional diversity. Pharmacogenomics J, 2005. 5(1): p. 6-13.
28. Wong, S.H. Pharmacogenomics and Variation in Drug Therapy Report. 2005.
29. Ring, B.J.; Eckstein, J.A.; Gillespie, J.S.; Binkley, S.N.; VandenBranden, M.; Wrighton, S.A. Identification of the human cytochromes p450 responsible for in vitro formation of R- and Snorfluoxetine. J Pharmacol Exp Ther, 2001. 297(3): p. 1044-50.
30. Spina, E.; Scordo, M.G.; D'Arrigo, C. Metabolic drug interactions with new psychotropic agents. Fundam Clin Pharmacol, 2003. 17(5): p. 517-38.
31. Vandel, P.; Talon, J.M.; Haffen, E.; Sechter, D. Pharmacogenetics and drug therapy in psychiatry - the role of the CYP2D6 polymorphism. Curr Pharm Des, 2007. 13(2): p. 241-50.
32. Ripple, M.G.; Pestaner, J.P.; Levine, B.S.; Smialek, J.E. Lethal combination of tramadol and multiple drugs affecting serotonin. Am J Forensic Med Pathol, 2000. 21(4): p. 370-4.
33. van Schaik, R.H.; van der Heiden, I.P.; van den Anker, J.N.; Lindemans, J. CYP3A5 variant allele frequencies in Dutch Caucasians. Clin Chem, 2002. 48(10): p. 1668-71.
34. Rosemary, J.; Adithan, C. The pharmacogenetics of CYP2C9 and CYP2C19: ethnic variation and clinical significance. Curr Clin Pharmacol, 2007. 2(1): p. 93-109.
35. van Schaik, R.H.; de Wildt, S.N.; Brosens, R.; van Fessem, M.; van den Anker, J.N.; Lindemans, J. The CYP3A4*3 allele: is it really rare? Clin Chem, 2001. 47(6): p. 1104-6.
36. Lamba, J.K.; Lin, Y.S.; Schuetz, E.G.; Thummel, K.E. Genetic contribution to variable human CYP3A-mediated metabolism. Adv Drug Deliv Rev, 2002. 54(10): p. 1271-94.
37. Koren, G.; Cairns, J.; Chitayat, D.; Gaedigk, A.; Leeder, S.J. Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother. Lancet, 2006. 368(9536): p. 704.
38. Ciszkowski, C.; Madadi, P.; Phillips, M.S.; Lauwers, A.E.; Koren, G. Codeine, ultrarapid-metabolism genotype, and postoperative death. N Engl J Med, 2009. 361(8): p. 827-8.
39. Faber, M.S.; Jetter, A.; Fuhr, U. Assessment of CYP1A2 activity in clinical practice: why, how, and when? Basic Clin Pharmacol Toxicol, 2005. 97(3): p. 125-34.
40. Parkinson, A.; Mudra, D.R.; Johnson, C.; Dwyer, A.; Carroll, K.M. The effects of gender, age, ethnicity, and liver cirrhosis on cytochrome P450 enzyme activity in human liver microsomes and inducibility in cultured human hepatocytes. Toxicol Appl Pharmacol, 2004. 199(3): p. 193-209.
41. Blanco, J.G.; Harrison, P.L.; Evans, W.E., & ; Relling, M.V. Human cytochrome P450 maximal activities in pediatric versus adult liver. Drug Metab Dispos., 2000. 28(4): p. 379-82.
42. Shi, R.; Winecker, R.E.; Lo, S.F.; Schneider, R.J.; Kin, M.; Schur, B.C.; Stremski, E.; Wong, S.H. Pharmacogenomics for Clinical and Forensic Toxicology- An adjunct for interpretation of drug toxicity, in Pharmacogenomics and proteomics: enabling the practice of personalized medicine. 2006, AACC Press: Washington DC, USA.
43. Bailey, D.G.; Malcolm, J.; Arnold, O.; Spence, J.D. Grapefruit juice-drug interactions. Br J Clin Pharmacol, 1998. 46(2): p. 101-10.
44. McKinnon R. A.; Evans, A.M. Cytochrome P450. 3. Clinically Significant Drug Interactions. Aust J Hosp Pharm, 2000. 30(4): p. 146-9.
45. Crewe, H.K.; Lennard, M.S.; Tucker, G.T.; Woods, F.R.; Haddock, R.E. The effect of selective serotonin re-uptake inhibitors on cytochrome P4502D6 (CYP2D6) activity in human liver microsomes. Br J Clin Pharmacol, 1992. 34(3): p. 262-5.
46. Kollek, R.; van Aken, J.; Feuerstein, G.; Schmedders, M. Pharmacogenetics, adverse drug reactions and public health. Community Genet, 2006. 9(1): p. 50-4.
47. Gardiner, S.J.; Begg, E.J. Pharmacogenetics, drug-metabolizing enzymes, and clinical practice. Pharmacol Rev, 2006. 58(3): p. 521-90.
48. Feierman, D.E.; Melinkov, Z.; Nanji, A.A. Induction of CYP3A by ethanol in multiple in vitro and in vivo models. Alcohol Clin Exp Res, 2003. 27(6): p. 981-8.
49. Coble, M.D.; Vallone, P.M.; Just, R.S.; Diegoli, T.M.; Smith, B.C.; Parsons, T.J. Effective strategies for forensic analysis in the mitochondrial DNA coding region. Int J Legal Med, 2006. 120(1): p. 27-32.
50. Bender, K.; Farfan, M.J.; Schneider, P.M. Preparation of degraded human DNA under controlled conditions. Forensic Sci Int, 2004. 139(2-3): p. 135-40.
51. Pelissier-Alicot, A.L.; Gaulier, J.M.; Champsaur, P.; Marquet, P. Mechanisms underlying postmortem redistribution of drugs: a review. J Anal Toxicol, 2003. 27(8): p. 533-44.
52. Pilgrim, J.L., Gerostamoulos, D. & Drummer, O. H. Deaths involving contraindicated and inadvisable combinations of serotonergic drugs. Int J Legal Med, 2010.
53. Wolf, C.R.; Smith, G. Pharmacogenetics. Br Med Bull, 1999. 55(2): p. 366-86.
54. Stipp, D. A DNA tragedy. Fortune, 2000. 142(10): p. 170-4, 178, 180 passim.
55. Gasche, Y.; Daali, Y.; Fathi, M.; Chiappe, A.; Cottini, S.; Dayer, P.; Desmeules, J. Codeine intoxication associated with ultrarapid CYP2D6 metabolism. N Engl J Med, 2004. 351(27): p. 2827-31.
56. Bailey, B.; Daneman, R.; Daneman, N.; Mayer, J.M.; Koren, G. Discrepancy between CYP2D6 phenotype and genotype derived from post-mortem dextromethorphan blood level. Forensic Sci Int, 2000. 110(1): p. 61-70.
57. Kaneda, Y.; Kawamura, I.; Fujii, A.; Ohmori, T. Serotonin syndrome - 'potential' role of the CYP2D6 genetic polymorphism in Asians. Int J Neuropsychopharmacol, 2002. 5(1): p. 105-6.