2001, Number 3
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Gac Med Mex 2001; 137 (3)
Pharmacogenetics and its Clinical Significance
Lares-Asseff I, Trujillo-Jiménez F
Language: Spanish
References: 63
Page:
PDF size: 139.55 Kb.
ABSTRACT
Therapeutic inefficacy and pharmacologic toxicity has frequently been seen in the clinical use of drugs or medicines in individuals under pharmacological treatment. Due to the presence of drug metabolizing enzymes, medicines may participate as substrate inhibitors or enzyme inductors. Their activity may vary among individuals. This enzymatic variability may be assessed through the analysis of recombinant DNA, using restriction analysis of the genomic DNA (fragment restriction of polymorphic length) and the enzymatic amplification of DNA through PCR (polymerase chain reaction). This technology has been used in clinical studies which allow us to know the mechanisms of inherited variations in response to drugs regulated by each individual's genes dependent on different races. These enzymatic differences may also be influenced by nutritional habits or environmental factors. This study deals with the importance of understanding the metabolism of drugs applied to the therapeutic management of individuals with therapeutic inefficacy or pharmacologic toxicity.
REFERENCES
Weinshilboum RM. Human pharmacogenetics. Federation Proceedings 1983;43:2295-97.
Garrod AE. Inborn errors of metabolism. London: Henry Frowde 1909 London: Oxford University Press Reprint; 1963.
Motulsky AG. Drug reaction, enzymes and biochemical genetics. J Am Med Assoc 1957;165:835-37.
Vogel F. Moderne Probleme der Humangenetik. Ergeb Inn Med Kinderheilkd 1959;12:52-125.
Kalow W. Pharmacogenetics: Heredity and the response to drugs, Saunders Philadelphia 1962.
Evans Price DA. An improved and simplified method of detecting the acetylator phenotype. J Med Genet 1969;6:405-407.
Vesell ES. Advances in pharmacogenetics. Prog Med Genet. 1973;9:291-67.
Pirmohamed M, Madden S, Park K. idiosyncratic Drug Reactions. Clin Pharmacokinet 1996;31:21-30.
Meyer Urs A. Genotype or phenotype. The definition of a pharmacogenetic polymorphism. Pharmacogenetics 1991;1:66-7.
Ford EB. Polymorphism and taxonomy. In: Huxley, J (ed) The New Systematics, Clarendon Press Oxford 1940:49-573.
Cavalli-Sforza LL, Bodmer WF. The genetics of human populations. San Francisco: W H Freeman and Col 971;41.
Vogel F, Motulsky AG. Human genetics. problems and approaches New York, Springer 1986;435.
Steiner E, Bertilsson L, Säwe J, Bertling I, Sjöqvist F. Polymorphic debrisoquin hydroxylation in 757 Swedish subjects. Clin Pharmacol Ther 1988;44:4 PP 431-35.
Ayesh R, Smith RL. Genetic polymorphism in human toxicology. In: Recent advances in Clin Pharmacology and Toxicology, Tumer P, Volans GN. (eds) Churchil Livingstone 1989;137-57.
Roots I, Drakoulis IN, Ploch M, Heinemeyer G, Loddenkemper R, Minks T, Nitz M, Otte F, Koch M. Debrisoquine hydmxylation phenotype acetylation phenotype and ABO blood groups as genetics host factors of lung cancer risk. Klin. Wochenschr 1988;66:87-97.
Hill AVS, Allsopp CEM, Kwiatkowski D, Anstey NM, Twumasi P, Rowe PA, Bennett S, Brewster D, McMichael AJ. Greenwood BM. Common West African HLA antigens are associated with protection from severe malaria. Nature. 1991;352:595-600.
Stead WW. Genetics and resistance to tuberculosis. Could resistance be enhanced by genetic engineering J Ann. Intern. Med. 1992;116:937-941.
Kalow W. Pharmacogenetics: Its biologic roots and the medical challenge. Clin Pharmacol Ther 1993;54:3:235-41.
Jelinek CF, Pohland AE, Wood GE. Worldwide occurrence of mycotoxins in foods and feeds- an update. Journal Assoc of the Official Analyt Chem 1989;72:223-30.
Gonzalez FJ, Nebert DW. Evolution of the P450 gene superfamily: animal:plant "warfare", molecular drive and human genetic differences in drug oxidaUon. Trends Genet 1990;6:182-6.
Bowman y Rand. Farmacología Bases bioquímicas y patológicas, aplicaciones clínicas 2a. Ed. Editorial Interamericana 1984;40:40.12.
Brosen K. Drug interactions and The cytochrome P450 system Clin Pharmacokinet 1995;29:20-5.
González F, Idle JR. Pharmacogenetic phenotyping and genotyping clin. Pharmacokinetic 1994;26:59-70.
Bell DA, Taylor JA, Butler MA, Stephens EA, Wiest J, Brubaker LH, Kadlubar FF, Lucier GW. Genotype/phenotype discordance for human arylamine N-acetyltransferase (NAT2) reveals a new slow -acetylator allele common in African-Americans. Short Communication. Oxford University Press 1993;16:89-92.
Weber WW, Hein W D. N-acetylation pharmacogenetics. Pharmacol. Rev 1985;37:25-69.
Hughes H B, Schmidt LH, Bieh JP. The metabolism of isoniazid, its implications in therapeutic use. Trans.14th. Conf Chemother. Tuberc. Washintong DCUS. Veterans Adm. Army Navy 1955;217-22.
Biehl JP. Emergence of drug resistance as related to the dosage and metabolism of isoniazid. Trans. 16th Conf. Chemother Tuberc Washington D.C. US. Veterans Adm Army Navy 1957;108-113.
Mitchell RS, Bell JC. Clinical implications of isoniazid PAS and streptomycin blood levels in pulmonary tuberculosis. Trans Am. Clin. Clim Ass 1957;69:98-105.
Evans Price DA, Manley KA, McKusick VA. Genetic control of isoniazid metabolism in man. British Medical Journal 1960;485-91.
Mitchell RS, Riemensnider DK, Harsch JR, Bel JC. New information on the clinical implications of individual variations in the metabolic handling of antituberculous drugs particularly ioniazid. Trans. 17th. Conf. Chemother. Tuberc. Washington D.C. US. Veterans Adm. Army Navy 1958;77-85.
Harris HW, Knight RA, Selin KJ. Comparison of isoniazid concentrations in the blood of people of Japanese and European descent. Am Rev Tuberc 1958;78:944-48.
Drayer DD, Reidenberg MM. Clinical consequences of polymorphic acetylation of basic drugs. Clinical and Pharmacological Therapeutics. 1977;22:251-58.
Evans WE, Relling MV, Petros WP, Meyer W H, Mirro J JR, Crom WR. Dexthrometorphan and caffeine as probes for simultaneous determination of debrisoquin oxidation and N-acetylation phenotypes in children. Clin Pharm Ther 1989;45:568-73.
Cartwright R, Glasham R, Rogers H, Ahmad R, Barham-Hall D, Higgins E, Khan M. Role of N-acetyltransferases phenotypes in bladder carcinogenesis: A pharmacogenetic epidemiological approach to bladder cancer. Lancet 1982;2:842-46.
Silverman D, Hartge P, Morrison A, Devesa SS. Epidemiology of bladder cancer. Hematol. Oncol. Clin. North. Am 1992;6:1-30.
Gibaldi M. Pharmacogenetics: Part l The Annals of Phannacotherapy 1992;26:121-26.
Mattila MJ,Tiitinen H. The rate of isoniazid inactivation in finnish diabetic and non diabetic patients. Ann Acad Sci fenn (Med) 1987;45:423-27.
La Du BM. Isoniazid and pseudocholinesterase polymorphisms. Fed Proc 1972;31:1276-85.
Kalow W, Bing-Kou T. Use of caffeine metabolite ratios to explore CYP1A2 and xanthine oxidase activities Clin Pharm Ther; 1991;50:508-19.
Evans DAP. N-acetyltransferase. Pharm Ther 1989;42;157-234.
Gibaldi M. Pharmacogenetics: Part II. The Annals of Pharmacotherapy 1992;26;255-61.
Castañeda-Hernández G, Falcon-Neri A, Herrera-Abarca A, Herrera JE, Flores-Murrieta FJ. Determination of three acetylator phenothypes in a Mexican population using sulfamethazine metabolic ratio. American Journal of Therapeutics 1995;2:57-60.
Peters JH, Gordon GT, Ghoul DC, Tolentino JC. Walsh GP, Levy L. The disposition of the antileprotic drug dapsone (DDS) in philippine subjects. Am J Trop Med Hyg 1972;21:450-57.
Antonarakis SE. Diagnosis of genetic disorders at the DNA level New Engl J. Med 1989;320:153-163.
Skoda RC, González FJ, Demierre A, Meyer UA. Two mutant alleles of the human cytochrome P450 db1 gene (P450 C2DI) associated with genetically deficient metabolism of debrisoquine and other drugs Proc Natl Acad Sci USA 1988;85:5240-43.
Meyer UA. Molecular genetics and the future of pharmacogenetics. Pharmac Ther 1990;46;349-55.
Mahgoub A, Idle JR, Dring LG, Lancaster R, Smith RL. Polymorphic hydroxylation of debrisoquine in man. The Lancet 1977;17;584-86.
Nelson JL, Thomas PD, Gash V W. Unsatured amines IV. Structures and Reaction of the dehydrosparteines and their salts. This Journal 1955;20:1552-58.
Kupfer A, Roberts RK, Schenker S, Branch RA. Stereoselective metabolism of mephenytoin in man. The Journal of Pharmacology and Experimental Therapeutics 1981;218;193-99.
Kupfer A, Preisig R. Pharmacogenetics of mephenytoin: A new drug hydroxylation polymorphism in man. Eur J. Clin Pharmacol 1984;26:753-59.
Kagimoto M, Heim M, Kagimoto K, Zeugin T, Meyer UA. Multiple mutations of the human cytocrome P450IID6 gene (CYP2D6) in poor metabolizers of debrisoquine. The Journal of Biological Chemestry 1990;265:28 lssue 17209-214.
Agúndez JAC, Martínez C, Ladero J, Ledesma CM, Ramos JM, Martín R, Rodríguez A, Jara C, Benítez J. Debrisoquin oxidation genotype and susceptibility to lung cancer. Clin Pharm Ther 1994;55:10-14.
Dobrocky PPN, Bennett LJ, Notarianni LJ. Rapid method for the routine determination of caffeine and its metabolites by high-performance liquid chromatography. Journal of chromatography B: Biomedical Applications 1994;652:104-108.
Castañeda-Hernández G, Hoyo-Vadillo C, Palma-Aguirre JA, Flores-Murrieta FJ. Pharmacokinetics of oral nifedipine in different populations. The J of Clin Pharmacol 1993;33;140-45.
Castañeda-Hernández G, Palma-Aguirre JA, Montoya-Cabrera MA, Murrieta-Flores FJ. Interethnic variability in nifedipine disposition: reduced systemic plasma clearence in Mexican subjects. Br J Clin Pharmacol 1996;41:
Palma-Aguirre JA, González-Llaven J, Flores-Murrieta FJ, Castañeda-Hernández G. Bioavailability of oral cyclosporine in healthy Mexican volunteers: Evidence for Interethnic Variability The J. of Clin Phannacology 1997;37;630-34.
Heim M, Meyer URS A. Genotyping of poor metabolisers of debrisoquine by allele-specific PCR amplification. Lancet 1990;336:529-32.
Nebert WD. Polymorphisms in drug-metabolizing enzymes: What is their clinical relevance and why do they exist? Am J Hum Genet 1997;60:265-71.
Walter-Sack I, Klotz U. Influence of diet and nutritional status on drug metabolism. Clin Pharmacokinet 1996;47-64.
Linder M, Valdes R Jr. Fundamentals and applications of pharmacogenetics for the clinical laboratory [in process citation]. Ann Clin Lab Sci 1999;29:140-9.
Krynesti Ki Ey, Evans WE. Pharmacogenetics as a molecular basis for individualized drug therapy: the thiopurine S-methyltransfemse paradig [in process citation]. Pharm Res 1999;16:342-9.
Szumlanski C, Otterness, Her Ch, Lee D, Brandriff B, Kelsell D, Spurr N, Lennard L, Wieben E, Weinshilboum R. Tiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism. DNA and Cell Biology 1996;15;117-30.
Schutz E, Gummert J, Mohr F, Oellerich. Azopurin-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient. The Lancet 1993;341:13.