Pharmacogenetics in medico-legal context

Forensic Science International

Volumn 203, Issue 1-3, 2010, Pages 44-52

  Sajantila, A ^a   Palo, J U ^a   Ojanpera I ^a   Davis, C ^b   Budowle, B ^b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF NORTH TEXAS HEALTH SCIENCE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMITRIPTYLINE; TRICYCLIC ANTIDEPRESSANT AGENT;

ARTICLE; AUTOPSY; CAUSE OF DEATH; DEPRESSION; DRUG BLOOD LEVEL; DRUG METABOLISM; EPIGENETICS; FORENSIC GENETICS; FORENSIC PATHOLOGY; FORENSIC TOXICOLOGY; GENE MAPPING; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; MEDICOLEGAL ASPECT; MOLECULAR BIOLOGY; PHARMACOGENETICS; PRIORITY JOURNAL; SCHIZOPHRENIA; SUICIDE;

EID: 78649274956     PISSN: 03790738     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.forsciint.2010.09.011     Document Type: Article

References (85)

1. Ackerman M.J., Tester D.J., Driscoll D.J. Molecular autopsy of sudden unexplained death in the young. Am. J. Forensic Med. Pathol. 2001, 22:105-111.
2. Aklillu E., Herrlin K., Gustafsson L.L., Bertilsson L., Ingelman-Sundberg M. Evidence for environmental influence on CYP2D6-catalysed debrisoquine hydroxylation as demonstrated by phenotyping and genotyping of Ethiopians living in Ethiopia or in Sweden. Pharmacogenetics 2002, 12:375-383.
3. Barbui C., Hotopf M. Amitriptyline v. the rest: still the leading antidepressant after 40 years of randomised controlled trials. Br. J. Psychiatry 2001, 178:129-144.
4. Basso C., Calabrese F., Corrado D., et al. Postmortem diagnosis in sudden cardiac death victims: macroscopic, microscopic and molecular findings. Cardiovasc. Res. 2001, 50:290-300.
5. Bertilsson L., Aberg-Wistedt A., Gustafsson L., Nordin C. Extremely rapid hydroxylation of debrisoquine: a case report with implication for treatment with nortripyline and other cyclic antidepressants. Ther. Drug Monit. 1985, 7:478-480.
6. Bertilsson L., Dahl M., Sjoqvist F., Aberg-Wistedt A., Humble M., Johansson I., Lundqvist E., Ingelman-Sundberg M. Molecular basis for rational megaprescribing in ultrarapid hydroxylators of debrisoquine. Lancet 1993, 341:63.
7. Blair P.S., Sidebotham P., Berry P.J., Evans M., Fleming P.J. Major epidemiological changes in sudden infant death syndrome: a 20-year population-based study in the UK. Lancet 2006, 367:314-319.
8. Breyer-Pfaff U. The metabolic fate of amitriptyline, nortriptyline and amitriptylinoxide in man. Drug Metab. Rev. 2004, 36:723-746.
9. Carson P.E., Flanagan C.L., Ickes C.E., Alving A.S. Enzymatic deficiency in primaquine-sensitive erythrocytes. Science 1956, 124:484-485.
10. Chou W.H., Yan F.X., de Leon J., Barnhill J., Rogers T., Cronin M., et al. Extension of a pilot study: impact from the cytochrome P450 2D6 polymorphism on outcome and costs associated with severe mental illness. J. Clin. Psychopharmacol. 2000, 20:246-251.
11. Cohle S.D., Sampson B.A. The negative autopsy: sudden cardiac death or other?. Cardiovasc. Pathol. 2001, 10:219-222.
12. Corrado D., Basso C., Thiene G. Sudden cardiac death in young people with apparently normal heart. Cardiovasc. Res. 2001, 50:399-408.
13. Dahl M.L., Johansson I., Bertilsson L., Ingelman-Sundberg M., Sjoqvist F. Ultrarapid hydroxylation of debrisoquine in a Swedish population. Analysis of the molecular genetic basis. J. Pharmacol. Exp. Ther. 1995, 274:516-520.
14. Drory, Turetz Y., Hiss Y., Lev B., Fisman E.Z., Pines A., Kramer M.R. Sudden unexpected death in persons less than 40 years of age. Am. J. Cardiol. 1991, 68:1388-1392.
15. 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, 99:25-34.
16. Ebbesen J., Buajordet I., Erikssen J., Brors O., Hilberg T., Svaar H., Sandvik L. Drugrelated deaths in a department of internal medicine. Arch. Intern. Med. 2001, 161:2317-2323.
17. Eichelbaum M., Spannbrucker N., Steincke B., Dengler H.J. Defective N-oxidation of sparteine in man: a new pharmacogenetic defect. Eur. J. Clin. Pharmacol. 1979, 16:183-187.
18. Ensom M.H., Chang T.K., Patel P. Pharmacogenetics: the therapeutic drug monitoring of the future?. Clin. Pharmacokinet. 2001, 40:783-802.
19. Evans D.A., Manley K.A., McKusick V.A. Genetic control of isoniazid metabolism in man. Br. Med. J. 1960, 2:485-491.
20. Evans W.E., Relling M.V. Pharmacogenomics: translating functional genomics into rational therapeutics. Science 1999, 286:487-491.
21. Gaedigk A., Blum M., Gaedigk R., Eichelbaum M., Meyer U. Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism. Am. J. Hum. Genet. 1991, 48:943-950.
22. Gaedigk A., Bradford L.D., Marcucci K.A., Leeder J.S. Unique CYP2D6 activity distribution and genotype-phenotype discordance in black Americans. Clin. Pharmacol. Ther. 2002, 72:76-89.
23. Gaedigk A., Simon S.D., Pearce R.E., Bradford L.D., Kennedy M.J., Leeder J.S. The CYP2D6 activity score: translating genotype information into a qualitative measure of phenotype. Clin. Pharmacol. Ther. 2008, 83:234-242.
24. Gasche Y., Daali Y., Fathi M., Chiappe A., Cottini S., Dayer P., Desmeules J. Codeine intoxication associated with ultrarapid CYP 2D6 metabolism. N. Engl. J. Med. 2004, 351(27):2827-2831.
25. Gomez A., Ingelman-Sundberg M. Epigenetic and microRNA-dependent control of cytochrome P450 expression: a gap between DNA and protein. Pharmacogenomics 2009, 10(July (7)):1067-1076.
26. Gonzalez F., Skoda R., Kimura S., Umeno M., Zanger U., Nebert D., Gelboin H., Hardwick J., Meyer U. Characterization of the common genetic defect in humans deficient in debrisoquine metabolism. Nature 1988, 331:442-446.
27. Grönlund J., Saari T.I., Hagelberg N.M., Neuvonen P.J., Olkkola K.T., Laine K. Exposure to oral oxycodone is increased by concomitant inhibition of CYP2D6 and 3A4 pathways, but not by inhibition of CYP2D6 alone. Br. J. Clin. Pharmacol. 2010, 70(1):78-87.
28. Hockwald R.S., Arnold J., Clayman C.B., Alving A.S. Toxicity of primaquine in Negroes. J. Am. Med. Assoc. 1952, 149:1568-1570.
29. Holmgren P., Carlsson B., Zackrisson A.L., Lindblom B., Dahl M.L., Scordo M.G., et al. Enantioselective analysis of citalopram and its metabolites in postmortem blood and genotyping for CYD2D6 and CYP2C19. J. Anal. Toxicol. 2004, 28:94-104.
30. Hughes H.B., Biehl J.P., Jones A.P., Schmidt L.H. Metabolism of isoniazid in man as related to the occurrence of peripheral neuritis. Am. Rev. Tuberc. 1954, 70:266-273.
31. Ingelman-Sundberg M. Pharmacogenomics: an opportunity for a safer and more efficient pharmacotherapy. J. Intern. Med. 2001, 250:186-200.
32. Ingelman-Sundberg M. Pharmacogenetics of cytochrome P450 and its applications in drug therapy: the past, present, and future. Trends Pharmacol. Sci. 2004, 25:193-200.
33. Ingelman-Sundberg M., Gomez A. The past, present and future of pharmacoepigenomics. Pharmacogenomics 2010, 11(May (5)):625-627.
34. International Statistical Classification of Diseases and Related health Problems - 10th Revision (ICD-10). Vol. 2: Instruction Manual 1993, World Health Organisation, Geneva.
35. Jackson H.A., Accili E.A. Evolutionary analyses of KCNQ1 and HERG voltage-gated potassium channel sequences reveal location-specific susceptibility and augmented chemical severities of arrhythmogenic mutations. BMC Evol. Biol. 2008, 8:188. 10.1186/1471-2148-8-188.
36. Jannetto P.J., Wong S.H., Gock S.B., Laleli-Sahin E., Schur B.C., Jentzen J.M. Pharmacogenomics as molecular autopsy for postmortem forensic toxicology: genotyping cytochrome P450 2D6 for oxycodone cases. J. Anal. Toxicol. 2002, 26:438-447.
37. Jorge-Nebert L.F., Jiang Z., Chakraborty R., Watson J., Jin L., McGarvey S.T., Deka R., Nebert D.W. Analysis of human CYP1A1 and CP1A2 genes and their shared bidirectional promoter in eight world populations. Hum. Mutat. 2010, 31:27-40.
38. Kalow W., Staron N. On distribution and inheritance of atypical forms of human serum cholinesterase, as indicated by dibucaine numbers. Can. J. Biochem. Physiol. 1957, 35:1305-1320.
39. Kalow W., Meyer U., Tyndale R. Pharmacogenetics 2001, Marcel Dekker, Inc, New York.
40. Kirchheiner J. CYP2D6 phenotype prediction from genotype: which system is the best?. Clin. Pharmacol. Ther. 2008, 83:225-227.
41. 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, 368:704.
42. Koski A., Sistonen J., Ojanperä 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):177-183.
43. Koski A., Ojanperä I., Sistonen J., Vuori E., Sajantila A. A fatal doxepin poisoning associated with a defective CYP2D6 genotype. Am. J. Forensic Med. Pathol. 2007, 28(3):259-261.
44. Launiainen T., Rasanen I., Vuori E., Ojanperä I. Fatal venlafaxine poisonings are associated with a high prevalence of drug interactions. Int. J. Legal Med. 2010, (April 30). (Epub ahead of print).
45. Lazarou J., Pomeranz B.H., Corey P.N. Incidence of adverse drug reactions in hospitalized patients: a meta-analysis of prospective studies. JAMA 1998, 279:1200-1205.
46. Lee W., Lockhart A.C., Kim R.B., Rothenberg M.L. Cancer pharmacogenomics: powerful tools in cancer chemotherapy and drug development. Oncologist 2005, 10(2):104-111.
47. Lehmann H., Ryan E. The familial incidence of low pseudocholinesterase level. Lancet 1956, 271:124.
48. Levo A., Koski A., Ojanperä I., Vuori E., Sajantila A. Post-mortem SNP analysis of CYP2D6 gene reveals correlation between genotype and opioid drug (tramadol) metabolite ratios in blood. Forensic Sci. Int. 2003, 135(1):9-15.
49. Liberthson R.R. Sudden death from cardiac causes in children and young adults. N. Engl. J. Med. 1996, 334:1039-1044.
50. Linder M.W., Valdes R. Fundamentals of pharmacogenetics. Pharmacogenomics and Proteomics: Enabling the Practice of Personalized Medicine 2006, 301-310. AACC Press, Washington, DC. S. Wong, M. Linder, R. Valdes (Eds.).
51. Lunetta P., Levo A., Laitinen P.J., Fodstad H., Kontula K., Sajantila A. Molecular screening for selected long QT syndrome (LQTS) in 165 consecutive bodies found in water. Int. J. Legal Med. 2003, 117:115-117.
52. Madea B., Musshoff F., Preuss J. Medical negligence in drug associated deaths. Forensic Sci. Int. 2009, 190(September (1-3)):67-73.
53. Mahgoub A., Idle J.R., Dring L.G., Lancaster R., Smith R.L. Polymorphic hydroxylation of debrisoquine in man. Lancet 1977, 2:584-586.
54. Maron B.J., Shirani J., Poliac L.C., Mathenge R., Roberts W.C., Mueller F.O. Sudden death in young competitive athletes: clinical, demographic, and pathological profiles. JAMA 1996, 276:199-204.
55. McElroy S., Sachse C., Brockmoller J., Richmond J., Lira M., Friedman D., et al. CYP2D6 genotyping as an alternative to phenotyping for determination of metabolic status in a clinical trial setting. AAPS PharmSci 2000, 2:E33.
56. Michaud K., Fellmann F., Abriel H., Beckmann J.S., Mangin P., Elger B.S. Molecular autopsy in sudden cardiac death and its implication for families: discussion of the practical, legal and ethical aspects of the multidisciplinary collaboration. Swiss Med. Wkly. 2009, 139:712-718.
57. Miller M.P., Kumar S. Understanding human disease mutations through the use of interspecific genetic variation. Hum. Mol. Genet. 2001, 10(21):2319-2328.
58. Miller M.P., Parker J.D., Rissing S.W., Kumar S. Quantifying the intragenic distribution of human disease mutations. Ann. Hum. Genet. 2003, 67(Pt 6):567-579.
59. Monney S. Bioinformatics approaches and resources for single nucleotide polymorphism functional analysis. Brief. Bioinform. 2005, 6:44-56.
60. Mooney S.D., Klein T.E. The functional importance of disease-associated mutation. BMC Bioinformatics 2002, 3:24.
61. Morentin B., Suarez-Mier M.P., Aguilera B. Sudden unexplained death among persons 1-35 years old. Forensic Sci. Int. 2003, 135:213-217.
62. Motulsky A.G. Drug reactions enzymes, and biochemical genetics. J. Am. Med. Assoc. 1957, 165:835-837.
63. National Academy of Sciences Strengthening Forensic Science in the United States: A Path Forward 2009, National Academies Press, Washington, DC, pp. 1-254.
64. Nebert D.W., Dalton T.P. The role of cytochrome P450 enzymes in endogenous signalling pathways and environmental carcinogenesis. Nat. Rev. Cancer 2006, 6:947-960.
65. Nei M. Selectionism and neutralism in molecular evolution. Mol. Biol. Evol. 2005, 22(12):2318-2342.
66. Neuspiel D.R., Kuller L.H. Sudden and unexpected natural death in childhood and adolescence. JAMA 1985, 254:1321-1325.
67. Phillips K., Veenstra D., Oren E., Lee J., Sadee W. Potential role of pharmacogenomics in reducing adverse drug reactions: a systematic review. JAMA 2001, 286:2270-2279.
68. Pirmohamed M., James S., Meakin S., Grenn C., Scott A.K., Walley T.J., Farrar K., Park B.K., Breckenridge A.M. Adverse drug reactions as cause of admission to hospital: prospective analysis of 18820 patients. Br. Med. J. 2004, 329:15-19.
69. Rozas J., Sanchez-Delbarrio J.C., Messeguer X., Rozas R. DnaSP, DNA polymorphism analyses by the coalescent and other methods. Bioinformatics 2003, 19(18):2496-2497.
70. Samer C.F., Daali Y., Wagner M., Hopfgartner G., Eap C.B., Rebsamen M.C., Rossier M.F., Hochstrasser D., Dayer P., Desmeules J.A. The effects of CYP2D6 and CYP3A activities on the pharmacokinetics of immediate release oxycodone. Br. J. Pharmacol. 2010, 160(June (4)):907-918.
71. Sajantila A., Lunetta P., Ojanperä I. Postmortem pharmacogenetics: toward molecular autopsies. Pharmacogenomics and Proteomics: Enabling the Practice of Personalized Medicine 2006, 301-310. AACC Press, Washington, DC. S. Wong, M. Linder, R. Valdes (Eds.).
72. Sallee F.R., DeVane C.L., Ferrell R.E. Fluoxetine-related death in a child with cytochrome P-450 2D6 genetic deficiency. J. Child Adolesc. Psychopharmacol. 2000, 10:27-34.
73. Schulz M., Schmoldt A. Therapeutic and toxic blood concentrations of more than 800 drugs and other xenobiotics. Pharmazie 2003, 58:447-474.
74. Sistonen J., Fuselli S., Palo J.U., Chauhan N., Padh H., Sajantila A. Pharmacogenetic variation at CYP2C9, CYP2C19, and CYP2D6 at global and microgeographic scales. Pharmacogenet. Genomics 2009, 19(2):170-179.
75. Steen V., Andreassen O., Daly A., Tefre T., Borresen A., Idle J., Gulbrandsen A. Detection of the poor metabolizer-associated CYP2D6(D) gene deletion allele by long-PCR technology. Pharmacogenetics 1995, 5:215-223.
76. Steimer W., Zopf K., von Amelunxen S., Pfeiffer H., Bachofer J., Popp J., et al. Allele-specific change of concentration and functional gene dose for the prediction of steady-state serum concentrations of amitriptyline and nortriptyline in CYP2C19 and CYP2D6 extensive and intermediate metabolizers. Clin. Chem. 2004, 50:1623-1633.
77. Steimer W., Zopf K., von Amelunxen S., Pfeiffer H., Bachofer J., Popp J., et al. Amitriptyline or not, that is the question: pharmacogenetic testing of CYP2D6 and CYP2C19 identifies patients with low or high risk for side effects in amitriptyline therapy. Clin. Chem. 2005, 51:376-385.
78. Strandell J., Bate A., Lindquist M., Edwards I.R. Drug-drug interactions-a preventable patient safety issue. Br. J. Clin. Pharmacol. 2008, 65:144-146. The Swedish, Finnish, INteraction X-referencing Drug-Drug Interaction Database (the SFINX group).
79. Thomson K. Livesequence: a C++ class library for evolutionary genetic analysis. Bioinformatics 2003, 19:2325-2327.
80. Wennerholm A., Dandara C., Sayi J., Svensson J.O., Abdi Y.A., Ingelman-Sundberg M., et al. The African-specific CYP2D617 allele encodes an enzyme with changed substrate specificity. Clin. Pharmacol. Ther. 2002, 71:77-88.
81. Vogel F. Moderne probleme der humangenetik. Ergebn. Inn. Med. Kinderheilkd. 1959, 12:52-125.
82. Wilkinson G. Drug metabolism and variability among patients in drug response. N. Engl. J. Med. 2005, 352:2211-2221.
83. Wong S., Wagner M., Jentzen J., Schur C., Bjerke J., Gock S., Chang C. Pharmacogenomics as an aspect of molecular autopsy for forensic pathology/toxicology: does genotyping CYP 2D6 serve as an adjunct for certifying methadone toxicity?. J. Forensic Sci. 2003, 48(6):1406-1415.
84. Yamaguchi-Kabata Y., Shimada M.K., Hayakawa Y., Minoshima S., Chakraborty R., Gojobori T., Imanishi T. Distribution and effects of nonsense polymorphisms in human genes. PLoS ONE 2008, 3(10):e3393. (Published online 2008 October 14. doi:10.1371/journal.pone.0003393).
85. Zackrisson A.L., Holmgren P., Gladh A.B., Ahlner J., Lindblom B. Fatal intoxication cases: cytochrome P450 2D6 and 2C19 genotype distributions. Eur. J. Clin. Pharmacol. 2004, 60:547-552.