References
- Phillips KA , VeenstraDL, OrenE, LeeJK, SadeeW. Potential role of pharmacogenomics in reducing adverse drug reactions: a systematic review. JAMA286(18) , 2270–2279 (2001).
- Schmutz J , WheelerJ, GrimwoodJ et al. Quality assessment of the human genome sequence. Nature 429 , 365–368 (2004).
- The 1000 Genomes Project Consortium. A map of human genome variation from population scale sequencing. Nature467 , 1061–1073 (2010).
- Gladding J , WebsterM, ZengI et al. The phramacogenetics and pharmacodynamics of clopidogrel response: an analysis from the PRINC (Plavix Response in Coronary Intervention) trial. J. Am. Coll. Cardiol. Cardiovasc. Interv. 1(6) , 620–627 (2008).
- Hewett M , OliverDE, RubinDL et al. PharmGKB: the pharmacogenetics knowledge base. Nucleic Acids Res. 30(1) , 163–165 (2002).
- McDonagh EM , Whirl-CarrilloM, GartenY, AltmanRB, KleinTE. From pharmacogenomic knowledge acquisition to clinical applications: the PharmGKB as a clinical pharmacogenomic biomarker resource. Biomarkers Med.5(6) , 795–806 (2011).
- Relling MV , KleinTE. CPIC: clinical pharmacogenomics implementation consortium of the pharmacogenomics research network. Clin. Pharmacol. Ther.89(3) , 464–467 (2011).
- Lee CC , McMillinGA, BabicN, MelisR, YeoKJ. Evaluation of a CYP2C19 genotype panel on the GenMark eSensor platform and the comparison to the autogenomics infinit and luminex CYP2C19 panels. Clin. Chim. Acta412(11) , 1133–1137 (2011).
- The Wellcome Trust Case Control Consortium. Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat. Genet.42 , 436–440 (2010).
- Sanna S , PitzalisM, ZoledziewskaM, ZaraI, SidoreC, MurruR. Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. Nat. Genet.42 , 495–497 (2009).
- Parvez B , ChopraN, RowanS et al. A common β1-adrenergic receptor polymorphism predicts favorable response to rate-control therapy in atrial fibrillation. J. Am. Coll. Cardiol. 59(1) , 49–56 (2012).
- Choi JH , YeeSW, RamirezAH et al. A common 5´-UTR variant in MATE2-K is associated with poor response to metformin. Clin. Pharmacol. Ther. 90(5) , 674–684 (2011).
- Huang RS , JohnattySE, GamazonER et al. Germline polymorphism discovered via a cell-based genome-wide approach predicts platinum response in ovarian cancer. Clin. Cancer Res. 17(16) , 5490–5500 (2011).
- Wheeler HE , GorsicLK, WelshM et al. Genome wide local ancestry approach identifies genes and variants associated with chemotherapeutic susceptibility in African Americans. PLoS ONE 6(7) , e21920 (2011).
- Liu W , HeL, RamirezJ et al. Functional EGFR germline polymorphisms may confer risk EGFR somatic mutations in non-small cell lung cancer with a predominant effect on exon 19 microdeletions. Cancer Res. 71 , 2423–2427 (2011).
- International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature409 , 860–921 (2001).
- International Human Genome Sequence Consortium. Finishing the euchromatic sequence of the human genome. Nature431 , 931–945 (2004).
- Mardis ER . A decades perspective on DNA sequencing technology. Nature470 , 198–203 (2011).
- Keyes RW . The impact of Moore‘s law. Solid-State Circuits Newsletter, IEEE11(5) , 25–27 (2006).
- Jaenisch R , BirdA. Epigentic regulation of gene expression: how the genome integrates intrinsic and environmental signals. Nat. Genet.33 , 245–254 (2003).
- Di Croce L , RakerVA, CorsaroM et al. Methyltransferase recruitment and DNA hypermethylation of target promoters by an oncogenic transcription factor. Science 295(5557) , 1079–1082 (2002).
- Wilson VL , JonesPA. DNA methylation decreases in aging but not in immortal cells. Science220 , 1055–1057 (1983).
- Bygren LO , KaatiG, EdvinssonS. Longevity determined by paternal ancestors‘ nutrition during their slow growth period. Acta Biotheor.49(1) , 53–59 (2001).
- Pembrey ME , BygrenLO, KaatiG et al. Sex-specific, male-line transgenerational responses in humans. Eur. J. Hum. Genet. 14 , 159–166 (2006).
- Ingleman-Sundberg M , GomezA. The past, present and future of pharmacoepigenomics. Pharmacogenomics11(5) , 625–627 (2010).
- Li Y , CuiY, HartSN, KlaassenCD, ZhongX. Dynamic patterns of histone methylation are associated with ontogenic expression of the CYP3A genes during mouse liver maturation. Mol. Pharmacol.75(5) , 1171–1179 (2009).
- Tsuchiya Y , NakajimaM, TakagiS, TaniyaT, YokoiT. MicroRNA regulates the expression of human cytochrome P450 1B1. Cancer Res.66 , 9090–9098 (2006).
- Pan Y , GaoW, YuA. MicroRNAs regulate CYP3A4 expression via direct and indirect targeting. Drug Metab. Dispos.37(10) , 2112–2117 (2009).
- Weber AA , ReimannS, SchrorK. Specific inhibition of ADP-induced platelet aggregation by colpidogrel in vitro. Br. J. Pharmacol.126 , 415–420 (1999).
- Hermann A , RauchBH, BraunM, SchrorK, WeberAA. Platelet CD40 ligand – subcellular localization, regulation of expression, and inhibition by clopidogrel. Platelets12 , 74–82 (2001).
- Kazui M , MishiyaY, IshizukaT et al. Identification of the human cytochrome P450 enzymes involved in the two oxidative steps in the bioactivation of clopidogrel to its pharmacologically active metabolite. Drug Metab. Dispos. 38 , 92–99 (2010).
- Hamm CW , BassandJ, AgewallS et al. ESC guidelines for the management of acute coronary syndromes in patients presenting with persistant ST-segment elevation. Eur. Heart J. 32 , 2999–3054 (2011).
- Goodman SG , MenonV, CannonCP, StegO, OhmanEM, HarringtonRA. Acute ST-segment elevation myocardial infarction: American College of Chest Physicians evidence-based clinical practice guidelines. Chest133(6) , 708–775 (2008).
- Serebruany VL , SteinhublSR, BergerPB, MalininAL, BhattDL, TopolEJ. Variability in platelet responsiveness to clopidogrel among 544 individals. J. Am. Coll. Cardiol.18(45) , 246–251 (2005).
- Sibbing D , BraunS, MorathT et al. Platelet reactivity after clopidogrel treatment assessed with point-of-care analysis and early drug-eluting stent thrombosis. J. Am. Coll. Cardiol. 53 , 849–856 (2009).
- Simon T , VerstuyftC, Mary-KrauseM et al. Genetic determinants of response to clopidogrel and cardiovascular events. N. Engl. J. Med. 360 , 363–375 (2009).
- Marin F , Gonzalex-ConejeroR, CapranzanoP, BassTA, RoldanV, AngiolilloDJ. Pharmacogenetics in cardiovascular antithrombotic therapy. J. Am. Coll. Cardiol.14(54) , 1041–1057 (2009).
- Fuster V , SweeneyJM. Clopidogrel and the reduced function CYP2C19 genetic variant: a limited piece of the overall therapeutic puzzle. JAMA304 , 1839–1840 (2010).
- Shuldiner AR , O‘ConnelJR, BlidenKP et al. Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy. JAMA 302(8) , 849–857 (2009).
- Scott SA , SangkuhlK, GardnerEE et al. Clinical pharmacogenetics implementation consortium guidelines for cytochrome P450-2C19 genotype and clopidogrel therapy. Clin. Pharmacol. Ther. 90(2) , 328–332 (2011).
- Holmes DR , DehmerGJ, KaulS, LeiferD, O‘GaraPT, SteinCM. ACCF/AHA clopidogrel clinical alert: approaches to the FDA ‘boxed warning‘. Circulation122 , 537–557 (2010).
- Holmes MV , PerelP, ShahT, HingoraniAD, CasasJP. CYP2C19 genotype, clopidogrel metabolism, platelet function, and cardiovascular events. JAMA306(24) , 2704–2714 (2011).
- Mega JL , SimonT, ColletJ et al. Reduced-function CYP2C19 genotype and risk of adverse clinical outcomes among patients treated with clopidogrel predominately for PCI. JAMA 304(16) , 1821–1830 (2010).
- Hulot J , ColletJ, SilvainJ et al. Cardiovascular risk in clopidogrel-treated patients according to cytochrome P450 2C19*2 loss of function allele or proton pump inhibitor coadministration. J. Am. Coll. Cardiol. 56 , 134–143 (2010).
- Ahmad T , VooraD, BeckerRC. The pharmacogenomics of antiplatelet agents: toward personalized therapy? Nat. Rev. Cardiol.8 , 560–571 (2011).
- Hulot JS , FusterV. Antiplatelet therapy: personalized medicine for clopidogrel resistance? Nat. Rev. Cardiol.6 , 334–336 (2009).
- Li T , ChangC, JinD, LinP, KhvorovaA, StaffordDW. Identification of the gene for vitamin K reductase. Nature427 , 541–544 (2004).
- Rieder MJ , ReinerAP, GageBF et al. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N. Engl. J. Med. 352 , 2285–2293 (2005).
- Higashi MK , VeenstraDL, KondoLM et al. Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy. JAMA 287(13) , 1690–1698 (2002).
- Furuya H , Fernandez-SalqueroP, GregoryW et al. Genetic polymorphism of CYP2C9 and its effect on warfarin maintenance dose requirement in patients undergoing anticoagulation therapy. Pharmacogenetics 5(6) , 389–392 (1995).
- Anderson JL , HorneBD, StevensSM et al. Randomized trial of genotype-guided versus standard warfarin dosing in patients initiation oral anticoagulation. Circulation 116 , 2563–2570 (2007).
- Hamburg AK , DahlML, BarbanM et al. A PK–PD model for predicting the impact of age, CYP2C9, and VKORC1 genotype on individualization of warfarin therapy. Clin. Pharmacol. Ther. 81(4) , 529–538 (2007).
- Joo J , GellerNL, FrenchB, KimmelSE, RosenbergY, EllenbergJH. Prospective α allocation in the clarification of optimal anticoagulation through genetics (COAG) trial. Clin. Trials7(5) , 597–604 (2010).
- van Schie RM , WadeliusMI, KamaliF et al. Genotype-guided dosing of coumarin derivatives: the European pharmacogenetics of anticoagulant therapy (EU-PACT) trial design. Pharmacogenomics 10(10) , 1687–1695 (2009).
- Do EJ , LenziniP, EbyCS et al. Genetics informatics trial (GIFT) of warfarin to prevent deep vein thrombosis (DVT): rationale and study design. Pharmacogenomics J. doi:10.1038/tpj.2011.18 (2011) (Epub ahead of print).
- Meckley LM , GudgeonJM, AndersonJL, WilliamsMS, VeenstraDL. A policy model to evaluate the benefits, risks and costs of warfarin pharmacogenomic testing. Pharmacoeconomics28 , 61–74 (2010).
- Rosove MH , GrodyWW. Should we be applying warfarin pharmacogenetics to clinical practice? No, not now. Ann. Inter. Med.151 , 270–273 (2009).
- Jin Y , DestaZ, StearnsV et al. CYP2D6 genotype, antidepressant use, and tamoxifen metabolism during adjuvant breast cancer treatement. J. Natl Cancer Inst.5(97) , 30–39 (2005).
- Goetz MP , RaeJM, SumanVJ et al. Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes. J. Clin. Oncol. 23(36) , 9312–9318 (2005).
- Stearns V , JohnsonMD, RaeJM et al. Active tamoxifen metabolite plasma concentrations after coadministration of tamoxifen and selective serotonin reuptake inhibitor paroxetine. J. Natl Cancer Inst. 3(95) , 1758–1764 (2003).
- Goetz MP , KamalA, AmesMM. Tamoxifen pharmacogenomics: the role of CYP2D6 as a predictor of drug response. Clin. Pharmacol. Ther.83(1) , 160–166 (2008).
- Wegman P , VainikkaL, StalO et al. Genotype of metabolic enzymes and the benefit of tamoxifen in postmenopausal breast cancer patients. Breast Cancer Res. 7(3) , 284–290 (2005).
- Wilke RA , XuH, DennyJC et al. The emerging role of electronic medical records in pharmacogenomics. Clin. Pharmacol. Ther. 89(3) , 379–386 (2011).
- Onitili AA , McCartyCA, WilkeRA et al. Estrogen receptor genotype is associated with risk of venous thromboembolism during tamoxifen therapy. Breast Cancer Res. Treat. 115(3) , 643–650 (2009).
- Bradford LD . CYP2D6 allele frequency in European Caucasians, Asians, Africans and their descendants. Pharmacogenomics3(2) , 229–243 (2002).
- Wang L , McleodHL, WeinshilboumRM. Genomics and drug response. N. Engl. J. Med.364 , 1144–1153 (2011).
- Fuchs VR , EmanuelEJ. The perfect storm of overutilization. JAMA299(23) , 2789–2791 (2008).
- Patrick AR , AvornJ, ChoudhryNK. Cost–effectiveness of genotype-guided warfarin dosing for patients with atrial fibrillation. Circ. Cardiovasc. Qual. Outcomes2(5) , 429–436 (2009).
- Eckman MH , RosandJ, GreenbergSM, GageBF. Cost–effectiveness of using pharmacogenetic information in warfarin dosing for patients with nonvalvular atrial fibrillation. Ann. Inter. Med.150(2) , 73–83 (2009).
- Poe BL , HaverstickDM, LandersJP. Warfarin genotyping in a single PCR reaction for microchip electrophoresis. Clin. Chem.58(4) , 725–731 (2012).
- Crowley JJ , SullivanPF, McleodHL. Pharmacogenomic genome-wide association studies: lessons learned this far. Pharmacogenomics10(2) , 161–163 (2009).
▪ Websites
- PharmGKB. http://www.pharmgkb.org
- Applying pharmacogenetic algorithms to individualize dosing of warfarin (Coumagen-II), NCT00927862. http://clinicaltrials.gov/ct2/show/NCT00927862
- WarfarinDosing. http://warfarindosing.org
- PharmGKB: IWPC Pharmacogenetic Dosing Algorithm. http://pharmgkb.org/do/serve?objId=PA162372936&objCls=Dataset#tabview=tab2