2012, Number 4
<< Back Next >>
Rev Invest Clin 2012; 64 (4)
Individual response to drug therapy: bases and study approaches
Reyes León-Cachón RB, Ascacio-Martínez JÁ, Barrera-Saldaña HA
Language: English
References: 63
Page: 364-376
PDF size: 297.71 Kb.
ABSTRACT
Genomic variation largely explains the differences in an
individual’s response to drug treatments. A field of genomic
medicine focuses on the identification of genetic polymorphisms
and gene mutations involved in the development and progression
of disease. Another part focuses on the development of
genetic tests to accompany medical prescriptions, to predict
how certain patients respond to therapy with a given pharmacological
agent. The field of predicting responses to drugs has
different strategies and methods, among which we find: the
use of liver microsomes, cell models, monitoring of probe
drugs, assays with recombinant proteins and recently the use
of microarray platforms or DNAchips.
REFERENCES
Ingelman-Sundberg M, Sim SC, Gomez A, Rodriguez-Antona C. Influence of cytochrome P450 polymorphisms on drug therapies: pharmacogenetic, pharmacoepigenetic and clinical aspects. Pharmacol Ther 2007; 116: 496-526.
Ingelman-Sundberg M. Genetic susceptibility to adverse effects of drugs and environmental toxicants. The role of the CYP family of enzymes. Mutat Res 2001; 482: 11-19.
Motulsky AG. Drug reactions enzymes and biochemical genetics. J Am Med Assoc 1957; 165: 835-7.
Motulsky AG, Qi M. Pharmacogenetics, pharmacogenomics and ecogenetics. J Zhejiang Univ Sci B 2006; 7: 169-70.
Marshall A. Genset-Abbott deal heralds pharmacogenomics era. Nat Biotechnol 1997; 15: 829-30.
Joseph T, Dipiro RLT, Gary C Yee, Gary R Matzke, Barbara G, Wells L, Posey M. Pharmacogenetics. In: Pharmacotherapy A pathophysiologic approach. Posey LM (ed.); New York: The McGraw-Hill; 2008, p. 2559.
O’Shaughnessy KM. HapMap, pharmacogenomics, and the goal of personalized prescribing. Br J Clin Pharmacol 2006; 61: 783-6.
Lander ES, et al. Initial sequencing and analysis of the human genome. Nature 2001; 409: 860-921.
Venter JC, et al. The sequence of the human genome. Science 2001; 291: 1304-51.
Science, U.S.D.o.E.O.o. Genomics and Its Impact on Science and Society:The Human Genome Project and Beyond. Human Genome Program A Primer, 12 (2008).
Collins FS, et al. New goals for the U.S. Human Genome Project: 1998-2003. Science 1998; 282: 682-9.
Pang AW, et al. Towards a comprehensive structural variation map of an individual human genome. Genome Biol 2010; 11: R52.
A map of human genome variation from population-scale sequencing. Nature 2010; 467: 1061-73.
Lewin B. Genes IX. Sudbury, Massachusetts: Jones And Bartlett Publishers; 2008.
Madsen BE, Villesen P, Wiuf C. Short tandem repeats and genetic variation. Methods Mol Biol 2010; 628: 297-306.
Hall IP. Pharmacogenetics, pharmacogenomics and airway disease. Respir Res2002; 3: 10.
Redon R, et al. Global variation in copy number in the human genome. Nature 2006; 444: 444-54.
Li J, et al. Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations. PLoS One 2009; 4: e7958.
Rogers JF, Nafziger AN, Bertino JS Jr. Pharmacogenetics affects dosing, efficacy, and toxicity of cytochrome P450-metabolized drugs. Am J Med 2002; 113: 746-50.
Paine MF, et al. The human intestinal cytochrome P450 “pie”. Drug Metab Dispos 2006; 34: 880-6.
Ingelman-Sundberg M. The human genome project and novel aspects of cytochrome P450 research. Toxicol Appl Pharmacol 2005; 207: 52-6.
Rodriguez-Antona C, Ingelman-Sundberg M. Cytochrome P450 pharmacogenetics and cancer. Oncogene 2006; 25: 1679-91.
Reyes-Hernandez OD, et al. A comparative study of CYP3A4 polymorphisms in Mexican Amerindian and Mestizo populations. Pharmacology 2008; 81: 97-103.
Qin J, Jones RC, Ramakrishnan R. Studying copy number variations using a nanofluidic platform. Nucleic Acids Res 2008; 36: e116.
Casner PR. The effect of CYP2D6 polymorphisms on dextromethorphan metabolism in Mexican Americans. J Clin Pharmacol 2005; 45: 1230-5.
Gamazon ER, Huang RS, Dolan ME, Cox NJ. Copy number polymorphisms and anticancer pharmacogenomics. Genome Biol 2011; 12: R46.
Eichelbaum M, Ingelman-Sundberg M, Evans WE. Pharmacogenomics and individualized drug therapy. Annu Rev Med 2006; 57: 119-37.
Ingelman-Sundberg M, Rodriguez-Antona C. Pharmacogenetics of drug-metabolizing enzymes: implications for a safer and more effective drug therapy. Philos Trans R Soc Lond B Biol Sci 2005; 360: 1563-70.
Sakaeda T, Nakamura T, Okumura K. Pharmacogenetics of drug transporters and its impact on the pharmacotherapy. Curr Top Med Chem 2004; 4: 1385-98.
Sakurai A, et al. Quantitative structure-activity relationship analysis and molecular dynamics simulation to functionally validate nonsynonymous polymorphisms of human ABC transporter ABCB1 (P-glycoprotein/MDR1). Biochemistry 2007; 46: 7678-93.
Putnam WS, Woo JM, Huang Y, Benet LZ. Effect of the MDR1 C3435T variant and P-glycoprotein induction on dicloxacillin pharmacokinetics. J Clin Pharmacol 2005; 45: 411-21.
Brenner SS, Klotz U. P-glycoprotein function in the elderly. Eur J Clin Pharmacol 2004; 60: 97-102.
Sekine T, Cha SH, Endou H. The multispecific organic anion transporter (OAT) family. Pflugers Arch 2000; 440: 337-50.
Niemi M, et al. Polymorphic organic anion transporting polypeptide 1B1 is a major determinant of repaglinide pharmacokinetics. Clin Pharmacol Ther 2005; 77: 468-78.
Thompson MD, Siminovitch KA, Cole DE. G proteincoupled receptor pharmacogenetics. Methods Mol Biol 2008; 448: 139-85.
Limdi NA, et al. Influence of CYP2C9 and VKORC1 1173C/T genotype on the risk of hemorrhagic complications in African- American and European-American patients on warfarin. Clin Pharmacol Ther 2008; 83: 312-21.
Lazarou J, Pomeranz BH, Corey PN. Incidence of adverse drug reactions in hospitalized patients: a meta-analysis of prospective studies. JAMA 1998; 279: 1200-05.
Pirmohamed M, et al. Adverse drug reactions as cause of admission to hospital: prospective analysis of 18 820 patients. BMJ 2004; 329: 15-19.
Nelson MR, et al. Genome-wide approaches to identify pharmacogenetic contributions to adverse drug reactions. Pharmacogenomics J 2009; 9: 23-33.
Donato MT, O’connor JE. Monography. 2009.
Administration, U.S.F.a.D. Pharmacogenomics and its role in drug safety. FDA Drug Safety Newsletter 2008; 1: 24-6.
Invitrogen. P450-3A4 BACULOSOMES® Reagents, rHuman.
Castell JV, Gómez-Lechón MJ. Drug Metabolism and Carcinogen Activation Studies with Human Genetically Engineered Cells. In: José VC, María José GL (eds.). In vitro Methods in Pharmaceutical Research. San Diego: Academic Press; 1996, p. 432-49.
Landsiedel R, Fabian E, Tralau T, Luch A. Chemical toxicity testing in vitro using cytochrome P450-expressing cell lines, such as human CYP1B1. Nat Protocols 2011; 6: 677-88.
Hong H, Goodsaid F, Shi L, Tong W. Molecular biomarkers: a US FDA effort. Biomark Med 2010; 4: 215-25.
Ekins S, Vanden-Branden M, Ring BJ, Wrighton SA. Examination of purported probes of human CYP2B6. Pharmacogenetics 1997; 7: 165-79.
Pelkonen O, et al. Inhibition and induction of human cytochrome P450 enzymes: current status. Arch Toxicol 2008; 82: 667-715.
Masimirembwa CM, Thompson R, Andersson TB. In vitro high throughput screening of compounds for favorable metabolic properties in drug discovery. Comb Chem High Throughput Screen 2001; 4: 245-63.
Lee SJ, et al. Identification of new CYP2C19 variants exhibiting decreased enzyme activity in the metabolism of S-mephenytoin and omeprazole. Drug Metab Dispos 2009; 37: 2262-9.
Preissner S, et al. SuperCYP: a comprehensive database on Cytochrome P450 enzymes including a tool for analysis of CYP-drug interactions. Nucleic Acids Res 2010; 38: D237- D243.
McGinnity DF, Riley RJ. Predicting drug pharmacokinetics in humans from in vitro metabolism studies. Biochem Soc Trans 2001; 29: 135-9.
Turpeinen M, et al. A predominate role of CYP1A2 for the metabolism of nabumetone to the active metabolite, 6-methoxy- 2-naphthylacetic acid, in human liver microsomes. Drug Metab Dispos 2009; 37: 1017-24.
Stringer RA, Strain-Damerell C, Nicklin P, Houston JB. Evaluation of recombinant cytochrome P450 enzymes as an in vitro system for metabolic clearance predictions. Drug Metab Dispos 2009; 37: 1025-34.
Kudzma EC, Carey ET. Pharmacogenomics: Personalizing Drug Therapy. American Journal of Nursing 2009; 109: 50-7.
Dumond JB, et al. A phenotype-genotype approach to predicting CYP450 and P-glycoprotein drug interactions with the mixed inhibitor/inducer tipranavir/ritonavir. Clin Pharmacol Ther 2010; 87: 735-42.
Dumaual C, et al. Comprehensive assessment of metabolic enzyme and transporter genes using the Affymetrix Targeted Genotyping System. Pharmacogenomics 2007; 8: 293-305.
Tejedor D, et al. Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia. Clin Chem 2005; 51: 1137-44.
Huang RS, Ratain MJ. Pharmacogenetics and pharmacogenomics of anticancer agents. CA Cancer J Clin 2009; 59: 42-55.
Mega JL, et al. Cytochrome p-450 polymorphisms and response to clopidogrel. N Engl J Med 2009; 360: 354-62.
Barrera-Saldaña HA. Nanofarmalab: Un DNAChip para la predicción de la respuesta a tratamientos farmacológicos (FONCICYT Fondo: C0002, Convocatoria: C0002-2008-01, Solicitud: 000000000095773, Vitagénesis S.A. (Monterrey, NL), Progenika Biopharma S.A. (Derio, España), Innopsys S.A.(Carbone, Francia) y Laboratorios Silanes S.A. (México, DF). Octubre 2009-Junio 2013).
Kitzmiller JP, Groen DK, Phelps MA, Sadee W. Pharmacogenomic testing: relevance in medical practice: why drugs work in some patients but not in others. Cleve Clin J Med 2011; 78: 243-57.
U.S. Department of Health and Human Services, F.a.D.A., Center for Drug Evaluation and Research, Center for Biologics Evaluation and Research, Center for Devices and Radiological Health. Clinical Pharmacogenomics: Premarketing Evaluation in Early Phase Clinical Studies. Clinical Pharmacology 2011.
Mallal S, et al. HLA-B*5701 screening for hypersensitivity to abacavir. N Engl J Med 2008; 358: 568-79.