Pharmacogenetics and pharmacogenomics: Why is this relevant to the clinical geneticist?

Clinical Genetics

Volumn 56, Issue 4, 1999, Pages 247-258

  Nebert, Daniel W ^a  

^a UNIVERSITY OF CINCINNATI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL GENETICS; DRUG FATALITY; DRUG METABOLISM; DRUG TRANSPORT; GENE; GENOTYPE; HUMAN; MORBIDITY; MORTALITY; PHARMACOGENETICS; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

ENZYMES; GENOME, HUMAN; GENOTYPE; HISTORY, 20TH CENTURY; HUMANS; PHARMACOGENETICS; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT, HERITABLE;

EID: 0032748555     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.560401.x     Document Type: Review

References (50)

1. Lazarou J, Pomeranz BH, Corey PN. Incidence of adverse drug reactions in hospitalized patients: a meta-analysis of prospective studies. J Am Med Assn 1998: 279: 1200-1205.
2. Motulsky AG. Drug reactions, enzymes and biochemical genetics. J Am Med Assn 1957: 165: 835-837.
3. Vesell ES. Recent progress in pharmacogenetics. Advanc Pharmacol 1969: 7: 1-52.
4. Daly AK, Cholerton S, Armstrong M, Idle JR. Genotyping for polymorphisms in xenobiotic metabolism as a predictor of disease susceptibility. Environ Health Perspect 1994: 102 (Suppl 9): 55-61.
5. Meyer UA. Pharmacogenetics: the slow, the rapid, and the ultrarapid. Proc Natl Acad Sci USA 1994: 91: 1983-1984.
6. Kalow W, Bertilsson L. Interethnic factors affecting drug response. Adv Drug Res 1994: 23: 1-53.
7. Nebert DW, McKinnon RA, Puga A. Human drug-metabolizing enzyme polymorphisms: effects on risk of toxicity and cancer. DNA Cell Biol 1996: 15: 273-280.
8. Gonzalez FJ. The role of carcinogen-metabolizing enzyme polymorphisms in cancer susceptibility. Reprod Toxicol 1997: 11: 397-412.
9. Nebert DW. Polymorphisms in drug-metabolizing enzymes: what is their clinical relevance and why do they exist? Am J Hum Genet 1997: 60: 265-271.
10. Nebert DW. Pharmacogenetics: 65 candles on the cake. Pharmacogenetics 1997: 7: 435-440.
11. Weber WW. Pharmacogenetics. New York/Oxford: Oxford University Press, 1997.
12. Caraco Y. Genetic determinants of drug responsiveness and drug interactions. Ther Drug Monit 1998: 20: 517-524.
13. Kleyn PW, Vesell ES. Genetic variation as a guide to drug development. Science 1998: 281: 1820-1821.
14. Nebert DW, Ingelman-Sundberg M, Daly AK. Genetic epidemiology of environmental toxicity and cancer susceptibility: human allelic polymorphisms in drug-metabolizing enzyme genes, their functional importance, and nomenclature issues. Drug Metab Rev 1999: 31: 467-487.
15. Weinshilboum RM, Otterness DM, Szumlanski CL. Methylation pharmacogenetics: catechol O-methyltransferase, thiopurine methyltransferase, and histamine N-methyltransferase. Annu Rev Pharmacol Toxicol 1999: 39: 19-52.
16. Snyder LH. Studies in human inheritance. IX. The inheritance of taste deficiency in man. Ohio J Sci 1932: 32: 436-468.
17. Vogel F. Moderne probleme der Humangenetik. Ergeb Inn Med Kinderheilkd 1959: 12: 52-125.
18. Nebert DW, Weber WW. Pharmacogenetics. In: Pratt WB, Taylor PW, eds. Principles of Drug Action. The Basis of Pharmacology. 3rd edition. New York: Churchill Livingstone Inc, 1990: 469-531.
19. Nebert DW. Book review: Pharmacogenetics by Weber WW, University Press, New York:Oxford. Am J Hum Genet 1997: 61: 1461-1462.
20. Nelson DR. (web site, 1999) http://drnelson.utmem.edu/ cytochromep450.html
21. Nebert DW. Proposed role of drug-metabolizing enzymes: regulation of steady state levels of the ligands that effect growth, homeostasis, differentiation, and neuroendocrine functions. Mol Endocrinol 1991: 5: 1203-1214.
22. Suzuki H, Sugiyama Y. Excretion of GSSG and glutathione conjugates mediated by MRP1 and cMOAT/ MRP2. Semin Liver Dis 1998: 18: 359-376.
23. Cole SP, Deeley RG. Multidrug resistance mediated by the ATP-binding cassette transporter protein MRP. Bioessays 1998: 20: 931-940.
24. Zhou LX, Pihlstrom B, Hardwick JP, Park SS, Wrighton SA, Holtzman JL. Metabolism of phenytoin by the gingiva of normal humans: the possible role of reactive metabolites of phenytoin in the initiation of gingival hyperplasia. Clin Pharmacol Ther 1996: 60: 191-198.
25. Gu J, Zhang QY, Genter MB, Lipinskas TW, Negishi M, Nebert DW, Ding X. Purification and characterization of heterologously expressed mouse CYP2A5 and CYP2G1: role in metabolic activation of acetaminophen and 2,6-dichlorobenzonitrile in mouse olfactory mucosal microsomes. J Pharmacol Exp Ther 1998: 285: 1287-1295.
26. Jacob HJ, Lindpaintner K, Lincoln SE, Kusumi K, Bunker RK, Mao YP, Ganten D, Dzau VJ, Lander ES. Genetic mapping of a gene causing hypertension in the stroke-prone spontaneously hypertensive rat. Cell 1991: 67: 213-224.
27. Schork NJ, Krieger JE, Trolliet MR, Franchini KG, Koike G, Krieger EM, Lander ES, Dzau VJ, Jacob HJ. A biometrical genome search in rats reveals the multigenic basis of blood pressure variation. Genome Res 1995: 5: 164-172.
28. Brown DM, Provoost AP, Daly MJ, Lander ES, Jacob HJ. Renal disease susceptibility and hypertension are under independent genetic control in the fawn-hooded rat. Nat Genet 1996: 12: 44-51.
29. Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R, Chakravarti A. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet 1999: 22: 239-247.
30. Wang DG, Fan JB, Siao CJ, Berno A, Young P, Sapolsky R, Ghandour G, Perkins N, Winchester E, Spencer J, Kruglyak L, Stein L, Hsie L, Topaloglou T, Hubbell E, Robinson E, Mittmann M, Morris MS, Shen N, Kilburn D, Rioux J, Lipshutz R, Chee M, Lander ES. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 1998: 280: 1077-1082.
31. Nickerson DA, Taylor SL, Weiss KM, Clark AG, EHutchinson RG, Stengard J, Salomaa V, Vartiainen E, Boerwinkle E, Sing CF. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nat Genet 1998: 19: 233-240.
32. Clark AG, Weiss KM, Nickerson DA, Taylor SL, Buchanan A, Stengard J, Salomaa V, Vartiainen E, Perola M, Boerwinkle E, Sing CF. Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am J Hum Genet 1998: 63: 595-612.
33. Rieder MJ, Taylor SL, Clark AG, Nickerson DA. Sequence variation in the human angiotensin converting enzyme. Nat Genet 1999: 22: 59-62.
34. Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Lane CR, Lim EP, Kalayanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 1999: 22: 231-238.
35. King MC, Wilson AC. Evolution at two levels in humans and chimpanzees. Science 1975: 188: 107-116.
36. Lander ES. The new genomics: global views of biology. Science 1996: 274: 536-539.
37. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996: 273: 1516-1517.
38. Collins FS, Guyer MS, Charkravarti A. Variations on a theme: cataloging human DNA sequence variation. Science 1997: 278: 1580-1581.
39. Marez D, Legrand M, Sabbagh N, Guidice JM, Spire C, Lafitte JJ, Meyer UA, Broly F. Polymorphism of the cytochrome P450 CYP2D6 gene in a European population: characterization of 48 mutations and 53 alleles, their frequencies, and evolution. Pharmacogenetics 1997: 7: 193-202.
40. McKusick VA. Genomics: structural and functional studies of genomes. Genomics 1997: 45: 244-249.
41. Blacker D, Wilcox MA, Laird NM, Rodes L, Horvath SM, Go RC, Perry R, Watson B Jr, Bassett SS, McInnis MG, Albert MS, Hyman BT, Tanzi RE. Alpha-2 macroglobulin is genetically associated with Alzheimer disease. Nat Genet 1998: 19: 357-360.
42. Dow DJ, Lindsey N, Cairns NJ, Brayne C, Robinson D, Huppert FA, Paykel ES, Xuereb J, Wilcock G, Whittaker JL, Rubinsztein DC. 2 macroglobulin polymorphism and Alzheimer disease risk in the UK. Nat Genet 1999: 22: 16-17.
43. Rudrasingham V, Wavrant-De Vrièze F, Lambert JC, Chakraverty S, Kehoe P, Crook R, Amouyel P, Wu W, Rice F, Pérez-Tur J, Frigard B, Morris JC, Carty S, Petersen R, Cottel D, Tunstall N, Holmans P, Lovestone S, Chartier-Harlin MC, Goate A, Hardy J, Owen MJ, Williams J. α-2 macroglobulin gene and Alzheimer disease. Nat Genet 1999: 22: 17-19.
44. Rogaeva EA, Premkumar S, Grubber J, Serneels L, Scott WK, Kawarai T, Song Y, Hill DM, Abou-Donia SM, Martin ER, Vance JJ, Yu G, Orlacchio A, Pei Y, Nishimura M, Supala A, Roberge B, Saunders AM, Roses AD, Schmechel D, Crane-Gatherum A, Sorbi S, Bruni A, Small GW, Conneally PM, Haines JL, Van Leuven F, St. George-Hyslop PH, Farrer LA, Pericak-Vance MA. An α-2 macroglobulin insertion-deletion polymorphism in Alzheimer disease. Nat Genet 1999: 22: 19-21.
45. Destro-Bisol G, Maviglia R, Caglia A, Boschi I, Spedini G, Pascali V, Clark A, Tishkoff S. Estimating European admixture in African Americans by using microsatellites and a microsatellite haplotype (CD4/Alu). Hum Genet 1999: 104: 149-157.
46. Lonjou C, Collins A, Morton NE. Allelic association between marker loci. Proc Natl Acad Sci USA 1999: 96: 1621-1626.
47. Kruglyak L. Genetic isolates: separate but equal? Proc Natl Acad Sci USA 1999: 96: 1170-1172.
48. Lander ES, Schork NJ. Genetic dissection of complex traits. Science 1994: 265: 2037-2048.
49. Ambrosone CB, Freudenheim JL, Graham S, Marshall JR, Vena JE, Brasure JR, Michalek AM, Laughlin R, Nemoto T, Gillenwater KA, Harrington AM, Shields PG. Cigarette smoking, N-acetyltransferase-2 genetic polymorphisms, and breast cancer risk. J Am Med Assn 1996: 276: 1494-1501.
50. 609C → T mutation and rapid fractional excretion of chlorzoxazone. Cancer Res 1997: 57: 2839-2842.