Pharmacogenetics and Individualized Therapy PDF
Preview Pharmacogenetics and Individualized Therapy
PHARMACOGENETICS AND INDIVIDUALIZED THERAPY PHARMACOGENETICS AND INDIVIDUALIZED THERAPY Edited by Anke-Hilse Maitland-van der Zee Utrecht University Utrecht, The Netherlands Ann K. Daly Newcastle University, Newcastle upon Tyne, UK Copyright(cid:2)2012byJohnWiley&Sons,Inc.Allrightsreserved. PublishedbyJohnWiley&Sons,Inc.,Hoboken,NewJersey PublishedsimultaneouslyinCanada Nopartofthispublicationmaybereproduced,storedinaretrievalsystem,ortransmittedinanyform orbyanymeans,electronic,mechanical,photocopying,recording,scanning,orotherwise,exceptas permittedunderSection107or108ofthe1976UnitedStatesCopyrightAct,withouteithertheprior writtenpermissionofthePublisher,orauthorizationthroughpaymentoftheappropriateper-copyfeetothe CopyrightClearanceCenter,Inc.,222RosewoodDrive,Danvers,MA01923,978-750-8400, fax978-750-4470,oronthewebatwww.copyright.com.RequeststothePublisherforpermission shouldbeaddressedtothePermissionsDepartment,JohnWiley&Sons,Inc.,111RiverStreet,Hoboken, NJ07030,201-748-6011,fax201-748-6008,oronlineathttp://www.wiley.com/go/permission. LimitofLiability/DisclaimerofWarranty:Whilethepublisherandauthorhaveusedtheirbesteffortsin preparingthisbook,theymakenorepresentationsorwarrantieswithrespecttotheaccuracyor completenessofthecontentsofthisbookandspecificallydisclaimanyimpliedwarrantiesof merchantabilityorfitnessforaparticularpurpose.Nowarrantymaybecreatedorextendedbysales representativesorwrittensalesmaterials.Theadviceandstrategiescontainedhereinmaynotbe suitableforyoursituation.Youshouldconsultwithaprofessionalwhereappropriate.Neither thepublishernorauthorshallbeliableforanylossofprofitoranyothercommercialdamages, includingbutnotlimitedtospecial,incidental,consequential,orotherdamages. Forgeneralinformationonourotherproductsandservicesorfortechnicalsupport,please contactourCustomerCareDepartmentwithintheUnitedStatesat877-762-2974,outsidethe UnitedStatesat317-572-3993orfax317-572-4002. Wileyalsopublishesitsbooksinavarietyofelectronicformats.Somecontentthatappearsinprint maynotbeavailableinelectronicformats.FormoreinformationaboutWileyproducts,visitour websiteatwww.wiley.com. LibraryofCongressCataloging-in-PublicationData: Pharmacogeneticsandindividualizedtherapy/editedbyAnke-HilseMailand-vanderZee,AnnK.Daly. p.;cm. Includesbibliographicalreferencesandindex. ISBN978-0-470-43354-6(cloth) 1. Pharmacogenetics.I.Maitland-vanderZee,Anke-Hilse.II.Daly,AnnK. [DNLM:1.Pharmacogenetics–methods.2. DrugTherapy–methods.3. IndividualizedMedicine– methods.QV38] RM301.3.G45P3962011 6150 .19–dc23 2011015209 PrintedintheUnitedStatesofAmerica 10987654321 CONTENTS PREFACE vii CONTRIBUTORS ix 1. Pharmacogenetics: A Historical Perspective 1 AnnK.Daly PART I PHARMACOGENETICS: RELATIONSHIP TO PHARMACOKINETICS AND PHARMACODYNAMICS 2. Pharmacogenetics in Drug Metabolism: Role of Phase I Enzymes 15 VitaDolzˇan 3. Pharmacogenetics of Phase II Drug Metabolizing Enzymes 81 IngolfCascorbi 4. Pharmacogenetics of Drug Transporters 101 HenrietteE.MeyerzuSchwabedissen,MarkusGrube,andHeyoK.Kroemer 5. Pharmacogenetics of Drug Targets 149 AnnK.DalyandMariaArranz PART II PHARMACOGENETICS: THERAPEUTIC AREAS 6. Cardiovascular Pharmacogenetics 185 BasJ.M.Peters,AnthoniusdeBoer,TomSchalekamp,OlafH.Klungel, andAnke-HilseMaitland-vanderZee 7. Pharmacogenetics in Psychiatry 215 EvangeliaM.Tsapakis,SarahCurran,RuthI.Ohlsen,NoraS.Vyas, KatherineJ.Aitchison,andAnnK.Daly 8. Pharmacogenetics in Cancer 251 SharonMarsh v vi CONTENTS 9. Pharmacogenetics of Asthma and COPD 271 EllenS.Koster,JanA.M.Raaijmakers,Anke-HilseMaitland-vanderZee, andGerardH.Koppelman 10. Pharmacogenetics of Adverse Drug Reactions 295 AnnK.Daly,MartinArmstrong,andMunirPirmohamed 11. Pharmacogenomics of Inflammatory Bowel Diseases 323 AlexanderTeml,SusanneKarner,ElkeSchaeffeler,andMatthiasSchwab 12. Pharmacogenetics of Pain Medication 353 Jo¨rnLo¨tsch PART III PHARMACOGENETICS: IMPLEMENTATION IN CLINICAL PRACTICE 13. Ethical and Social Issues in Pharmacogenomics Testing 377 SusanneVijverberg,ToinePieters,andMartinaCornel PART IV DEVELOPMENTS IN PHARMACOGENETIC RESEARCH 14. High-ThroughputGenotypingTechnologiesforPharmacogenetics 403 BeatrizSobrinoandAngelCarracedo 15. Developments in Analyses in Pharmacogenetic Datasets 415 AlisonA.Motsinger-Reif PART V PHARMACOGENETICS: INDUSTRY AND REGULATORYAFFAIRS 16. Applications of Pharmacogenetics in Pharmaceutical Research and Development 439 DanielK.BurnsandScottS.Sundseth 17. Role of Pharmacogenetics in Registration Processes 461 Myong-JinKim,IssamZineh,Shiew-MeiHuang,andLawrenceJ.Lesko PART VI CONCLUSIONS 18. Pharmacogenetics: Possibilities and Pitfalls 479 Anke-HilseMaitland-vanderZeeandAnnK.Daly INDEX 485 PREFACE Pharmacogeneticsandindividualizedtherapyisarapidlyevolvingfieldthatislikely to have important consequences for clinical practice in the coming decades. This bookisaimedatageneralaudienceincludingadvancedundergraduateandgraduate studentsinmedicine,pharmacy,pharmacology,andotherrelateddisciplinesaswell as researchers based in either academia or the pharmaceutical industry. Some familiarity with basic pharmacology and genetics is assumed. Thisbookisorganizedinfiveparts.PartIdescribesthebasicprinciplesofphar- macogenetics including factors relevant to drug disposition (phase I and phase II metabolizing enzymes, and drug transporters) and the role of pharmacodynamics (drug targets). PartIIincludesdiscussionsofstate-of-theartpharmacogeneticsinmanyimpor- tanttherapeuticareas[cardiovascular,psychiatry,cancer,asthma/chronicobstructive pulmonary disease (COPD), adverse drug reactions, transplantation, inflammatory bowel disease, pain medication]. Part III describes ethical and related issues in implementing pharmacogenetics into clinical practice. InPartIVimportantdevelopmentsinthetechologysupportingpharmacogenetics researcharediscussed.Morerecentdevelopmentsingenotypingtechniquesprovide opportunities for genotyping over 1 million single-nucleotide polymorphisms in many patients at affordable prices. Further developments in analysis techniques provide investigators with the opportunity to consider gene–environment and epistatic interactions as well as the possibility of whole-genome sequencing. PartVdiscussestheimpactofpharmacogeneticsinthepharmaceuticalindustry and also the role that pharmacogenetics currently plays in the registration process. Ithasbeenaprivilegetointeractwiththedistinguishedexpertauthorswhohave providedchaptersforthisbook,andwewouldliketoexpressoursinceregratitudeto themfortheirexcellentcontributions.WealsowishtothankLisaGilhuijs-Pederson, PhD for assistance in editing this book. ANN K. DALY, PhD ANKE-HILSE MAITLAND-VAN DER ZEE, PharmD PhD vii CONTRIBUTORS Katherine J. Aitchison, Institute of Psychiatry, King’s College London, London, UK MartinArmstrong, ClinicalDevelopmentandMedicalAffairs,ShireAG,Geneva, Switzerland Maria Arranz, Institute of Psychiatry, King’s College London, London, UK Anthonius de Boer, Faculty of Science, Utrecht Institute for Pharmaceutical Sciences (UIPS), Division of Pharmacoepidemiology and Pharmacotherapy, Utrecht University, Utrecht, The Netherlands DanielK.Burns, DeaneDrugDiscoveryInstitute,DukeUniversity,Durham,North Carolina, USA AngelCarracedo, GalicianFoundationofGenomicMedicine(SERGAS),Univer- sity of Santiago de Compostela, Santiago de Compostela, Spain IngolfCascorbi, InstituteofExperimentalandClinicalPharmacology,University Hospital Schleswig–Holstein, Kiel, Germany MartinaCornel, DepartmentofHumanGenetics/EMGOInstituteforHealthCare andResearch,VUUniversityMedicalCenter,Amsterdam,TheNetherlandsand Center for Society and Genomics, Radboud University, Nijmegen, The Netherlands Sarah Curran, Institute of Psychiatry, King’s College London, London, UK AnnK.Daly, InstituteofCellularMedicine,NewcastleUniversityMedicalSchool, Newcastle upon Tyne, UK Vita Dol(cid:2)zan, Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia Markus Grube, Department of Pharmacology, Ernst Moritz Arndt-University of Greifswald, Greifswald, Germany Shiew-Mei Huang, Office of Clinical Pharmacology, Center for Drug Evaluation and Research, Food and Drug Administration, Silver Spring, Maryland, USA SusanneKarner, Dr.MargareteFischer-BoschInstituteofClinicalPharmacology, Stuttgart, Germany ix x CONTRIBUTORS Myong-JinKim, OfficeofClinicalPharmacology,CenterforDrugEvaluationand Research, Food and Drug Administration, Silver Spring, Maryland, USA OlafH.Klungel, FacultyofScience,UtrechtInstituteofPharmaceuticalSciences (UIPS), Division of Pharmacoepidemiology and Pharmacotherapy, Utrecht University, Utrecht, The Netherlands GerardH.Koppelman, PediatricPulmonologyandPediatricAllergology,Beatrix Childrens Hospital, University Medical Center Groningen, Groningen, The Netherlands Ellen S. Koster, Faculty of Science, Utrecht Institute of Pharmaceutical Sciences (UIPS), Division of Pharmacoepidemiology and Pharmacotherapy, Utrecht University, Utrecht, The Netherlands HeyoK.Kroemer, DepartmentofPharmacology,ErnstMoritzArndt-Universityof Greifswald, Greifswald, Germany LawrenceJ.Lesko, OfficeofClinicalPharmacology,CenterforDrugEvaluation and Research, Food and Drug Administration, Silver Spring, Maryland, USA J€ornL€otsch, PharmazentrumFrankfurtandDepartmentofClinicalPharmacology, Johann Wolfgang Goethe-University Hospital, Frankfurt, Germany Anke-Hilse Maitland-vanderZee, Faculty ofScience, UtrechtInstituteofPhar- maceuticalSciences(UIPS),DivisionofPharmacoepidemiologyandPharmaco- therapy, Utrecht University, Utrecht, The Netherlands Sharon Marsh, Faculty of Pharmacy and Pharmaceutical Sciences, University of Alberta, Edmonton, Alberta, Canada HenrietteE.MeyerzuSchwabedissen, DepartmentofPharmacology,ErnstMoritz Arndt-UniversityofGreifswald,Greifswald,Germany AlisonA.Motsinger-Reif, BioinformaticsResearchCenter,DepartmentofStatis- tics, North Carolina State University, Raleigh, North Carolina, USA Ruth I. Ohlsen, Institute of Psychiatry, King’s College London, London, UK BasJ.M.Peters, FacultyofScience,UtrechtInstituteforPharmaceuticalSciences (UIPS), Division of Pharmacoepidemiology and Pharmacotherapy, Utrecht University, Utrecht, The Netherlands Toine Pieters, Faculty of Science, Utrecht Institute for Pharmaceutical Sciences (UIPS), Division of Pharmacoepidemiology and Pharmacotherapy, Utrecht University, Utrecht, The Netherlands; and Department of Medical Humanities, VU University Medical Center, Amsterdam, The Netherlands MunirPirmohamed, InstituteofTranslationalMedicine,UniversityofLiverpool, Liverpool, UK CONTRIBUTORS xi Jan A. M. Raaijmakers, Faculty of Science, Utrecht Institute of Pharmaceutical Sciences (UIPS), Division of Pharmacoepidemiology and Pharmacotherapy, Utrecht University, Utrecht, The Netherlands ElkeSchaeffeler, Dr.MargareteFischer-BoschInstituteofClinicalPharmacology, Stuttgart, Germany Tom Schalekamp, Faculty of Science, Utrecht Institute for Pharmaceutical Sciences (UIPS), Division of Pharmacoepidemiology and Pharmacotherapy, Utrecht University, Utrecht, The Netherlands MatthiasSchwab, Dr.MargareteFischer-BoschInstituteofClinicalPharmacology, Stuttgart,GermanyandInstituteofExperimentalandClinicalPharmacologyand Toxicology, University Hospital, T€ubingen, Germany Beatriz Sobrino, Galician Foundation of Genomic Medicine (SERGAS), Univer- sity of Santiago de Compostela, Santiago de Compostela, Spain Scott S. Sundseth, Cabernet Pharmaceuticals, Durham, North Carolina, USA AlexanderTeml, Dr.MargareteFischer-BoschInstituteofClinicalPharmacology, Stuttgart, Germany EvangeliaM.Tsapakis, InstituteofPsychiatry,King’sCollegeLondon,London,UK Susanne Vijverberg, Faculty of Science, Utrecht Institute for Pharmaceutical Sciences (UIPS), Division of Pharmacoepidemiology and Pharmacotherapy, Utrecht University, Utrecht, The Netherlands Nora S. Vyas, Institute of Psychiatry, King’s College London, London, UK Issam Zineh, Office of Clinical Pharmacology, Center for Drug Evaluation and Research, Food and Drug Administration, Silver Spring, Maryland, USA (a) (b) Axon Dopamine 5-HT Norepinephrine GABA Glycine R R G GPCR Na+, K+, Ca2+, CI– Ligand-gated ion channel FIGURE5.5 SLC6genefamilytransporterstructure:(a)thestructurewithtransmembrane domains shown in red; (b) in the presynaptic nerve terminals of dopamine-, 5HT-, norepi- nephrine-, glycine-, and GABA-containing synapses, the vesicular transporters [shown in green (e.g., VMAT1 and VMAT2)] sequester neurotransmitters into synaptic vesicles. Released neurotransmitter exerts its effects via receptors such as dopamine receptors, adrenoceptors,and5HTreceptors(lightblue,withassociatedGproteiningray).Theplasma membranetransportersencodedbytheSLC6genefamily(red)arelocatedinthemembraneof thepresynapticneuron(DAT,SERT,NET,GlyT2,GAT1,andGAT2).(AdaptedfromGether etal.[177]andreproducedwithpermission.)
The list of books you might like
