Cardiovascular pharmacogenomics: Expectations and practical benefits

Clinical Pharmacology and Therapeutics

Volumn 95, Issue 3, 2014, Pages 281-293

  Turner, R M ^a,b   Pirmohamed, M ^a,b  

^a UNIVERSITY OF LIVERPOOL   (United Kingdom)

^b ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENERGIC BETA-ANTAGONISTS; ANIMALS; ANTI-ARRHYTHMIA AGENTS; ANTICOAGULANTS; CARDIOVASCULAR DISEASES; HUMANS; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; PHARMACOGENETICS; PLATELET AGGREGATION INHIBITORS; RENIN-ANGIOTENSIN SYSTEM; TICLOPIDINE; WARFARIN;

EID: 84894458082     PISSN: 00099236     EISSN: 15326535     Source Type: Journal    
DOI: 10.1038/clpt.2013.234     Document Type: Article

References (75)

1. Johnson, J.A. & Cavallari, L.H. Pharmacogenetics and cardiovascular disease-implications for personalized medicine. Pharmacol. Rev. 65, 987-1009 (2013).
2. Ellinor, P.T. et al. Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat. Genet. 44, 670-675 (2012).
3. Schunkert, H. et al.; Cardiogenics; CARDIoGRAM Consortium. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat. Genet. 43, 333-338 (2011).
4. Smith, N.L. et al. Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. Circ. Cardiovasc. Genet. 3, 256-266 (2010).
5. Yang, J. et al. Influence of CYP2C9 and VKORC1 genotypes on the risk of hemorrhagic complications in warfarin-treated patients: a systematic review and meta-analysis. Int. J. Cardiol. 168, 4234-4243 (2013).
6. Link, E. et al. SLCO1B1 variants and statin-induced myopathy-a genomewide study. N. Engl. J. Med. 359, 789-799 (2008).
7. Kaab, S. et al. A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes. Circ. Cardiovasc. Genet. 5, 91-99 (2012).
8. Roden, D.M. Cardiovascular pharmacogenomics: the future of cardiovascular therapeutics? Can. J. Cardiol. 29, 58-66 (2013).
9. Mallal, S. et al.; PREDICT-1 Study Team. HLA-B*5701 screening for hypersensitivity to abacavir. N. Engl. J. Med. 358, 568-579 (2008).
10. Havulinna, A.S. et al. A blood pressure genetic risk score is a significant predictor of incident cardiovascular events in 32,669 individuals. Hypertension 61, 987-994 (2013).
11. Mega, J.L. et al. Reduced-function CYP2C19 genotype and risk of adverse clinical outcomes among patients treated with clopidogrel predominantly for PCI: a meta-analysis. JAMA 304, 1821-1830 (2010).
12. Li, Y., Tang, H.L., Hu, Y.F. & Xie, H.G. The gain-of-function variant allele CYP2C19*17: a double-edged sword between thrombosis and bleeding in clopidogrel-treated patients. J. Thromb. Haemost. 10, 199-206 (2012).
13. Su, J. et al. ABCB1 C3435T polymorphism and response to clopidogrel treatment in coronary artery disease (CAD) patients: a meta-analysis. PLoS ONE 7, e46366 (2012).
14. Mangravite, L.M. et al. A statin-dependent QTL for GATM expression is associated with statin-induced myopathy. Nature 502, 377-380 (2013).
15. Beta-Blocker Evaluation of Survival Trial Investigators. A trial of the betablocker bucindolol in patients with advanced chronic heart failure. N. Engl. J. Med. 344, 1659-1667 (2001).
16. Liggett, S.B. et al. A polymorphism within a conserved beta(1)-adrenergic receptor motif alters cardiac function and beta-blocker response in human heart failure. Proc. Natl. Acad. Sci. U.S.A. 103, 11288-11293 (2006).
17. Bristow, M.R. et al. An alpha2C-adrenergic receptor polymorphism alters the norepinephrine-lowering effects and therapeutic response of the betablocker bucindolol in chronic heart failure. Circ. Heart Fail. 3, 21-28 (2010).
18. A leong, R.G., Sauer, W.H., Robertson, A.D., Liggett, S.B. & Bristow, M.R. Adrenergic receptor polymorphisms and prevention of ventricular arrhythmias with bucindolol in patients with chronic heart failure. Circ. Arrhythm. Electrophysiol. 6, 137-143 (2013).
19. A leong, R.G. et al. Prevention of Atrial Fibrillation by Bucindolol Is Dependent on the Beta1389 Arg/Gly Adrenergic Receptor Polymorphism. JACC. Heart Fail. 1, 338-344 (2013).
20. Liggett, S.B. et al. A GRK5 polymorphism that inhibits beta-adrenergic receptor signaling is protective in heart failure. Nat. Med. 14, 510-517 (2008).
21. Jamshidi, Y. et al. Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia. J. Am. Coll. Cardiol. 60, 841-850 (2012).
22. Manolio, T.A. et al. Implementing genomic medicine in the clinic: the future is here. Genet. Med. 15, 258-267 (2013).
23. Pulley, J.M. et al. Operational implementation of prospective genotyping for personalized medicine: the design of the Vanderbilt PREDICT project. Clin. Pharmacol. Ther. 92, 87-95 (2012).
24. Chisholm, R.L. At the interface between medical informatics and personalized medicine: the eMERGE network experience. Healthc. Inform. Res. 19, 67-68 (2013).
25. Johnson, J.A. et al.; Clinical Pharmacogenetics Implementation Consortium. Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing. Clin. Pharmacol. Ther. 90, 625-629 (2011).
26. Caraco, Y., Blotnick, S. & Muszkat, M. CYP2C9 genotype-guided warfarin prescribing enhances the efficacy and safety of anticoagulation: a prospective randomized controlled study. Clin. Pharmacol. Ther. 83, 460-470 (2008).
27. Klein, T.E. et al. Estimation of the warfarin dose with clinical and pharmacogenetic data. N. Engl. J. Med. 360, 753-764 (2009).
28. Owen, R.P., Gong, L., Sagreiya, H., Klein, T.E. & Altman, R.B. VKORC1 pharmacogenomics summary. Pharmacogenet. Genomics 20, 642-644 (2010).
29. Takeuchi, F. et al. A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose. PLoS Genet. 5, e1000433 (2009).
30. Lee, M.T. & Klein, T.E. Pharmacogenetics of warfarin: challenges and opportunities. J. Hum. Genet. 58, 334-338 (2013).
31. Suarez-Kurtz, G. & Botton, M.R. Pharmacogenomics of warfarin in populations of African descent. Br. J. Clin. Pharmacol. 75, 334-346 (2013).
32. Perera, M.A. et al. Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Lancet 382, 790-796 (2013).
33. McDonald, M.G., Rieder, M.J., Nakano, M., Hsia, C.K. & Rettie, A.E. CYP4F2 is a vitamin K1 oxidase: an explanation for altered warfarin dose in carriers of the V433M variant. Mol. Pharmacol. 75, 1337-1346 (2009).
34. Cha, P.C. et al. Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanese. Hum. Mol. Genet. 19, 4735-4744 (2010).
35. Pirmohamed, M. et al.; the EU-PACT Group. A randomized trial of genotypeguided dosing of warfarin. N. Engl. J. Med. 369, 2294-2303 (2013).
36. Kimmel, S.E. et al.; the COAG Investigators. A pharmacogenetic versus a clinical algorithm for warfarin dosing. N. Engl. J. Med. 369, 2283-2293(2013).
37. Cairns, J.A. Which oral anticoagulant for which atrial fibrillation patient: recent clinical trials and evidence-based choices. Can. J. Cardiol. 29, 1165-1172 (2013).
38. Scott, S.A. et al. Clinical pharmacogenetics implementation consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update. Clin. Pharmacol. Ther. 94, 317-323 (2013).
39. Zhu, H.J., Wang, X., Gawronski, B.E., Brinda, B.J., Angiolillo, D.J. & Markowitz, J.S. Carboxylesterase 1 as a determinant of clopidogrel metabolism and activation. J. Pharmacol. Exp. Ther. 344, 665-672 (2013).
40. Trenk, D. & Hochholzer, W. Genetics of platelet inhibitor treatment. Br. J. Clin. Pharmacol. (2013); e-pub ahead of print 28 August 2013.
41. Holmes, M.V., Perel, P., Shah, T., Hingorani, A.D. & Casas, J.P. CYP2C19 genotype, clopidogrel metabolism, platelet function, and cardiovascular events: a systematic review and meta-analysis. JAMA 306, 2704-2714 (2011).
42. Holmes, D.R. Jr, Dehmer, G.J., Kaul, S., Leifer, D., O'Gara, P.T. & Stein, C.M. ACCF/AHA clopidogrel clinical alert: approaches to the FDA "boxed warning": a report of the American College of Cardiology Foundation Task Force on clinical expert consensus documents and the American Heart Association endorsed by the Society for Cardiovascular Angiography and Interventions and the Society of Thoracic Surgeons. J. Am. Coll. Cardiol. 56, 321-341 (2010).
43. Jang, J.S. et al. Meta-analysis of cytochrome P450 2C19 polymorphism and risk of adverse clinical outcomes among coronary artery disease patients of different ethnic groups treated with clopidogrel. Am. J. Cardiol. 110, 502-508 (2012).
44. Zabalza, M. et al. Meta-analyses of the association between cytochrome CYP2C19 loss-and gain-of-function polymorphisms and cardiovascular outcomes in patients with coronary artery disease treated with clopidogrel. Heart 98, 100-108 (2012).
45. Sorich, M.J., Polasek, T.M. & Wiese, M.D. Systematic review and meta-analysis of the association between cytochrome P450 2C19 genotype and bleeding. Thromb. Haemost. 108, 199-200 (2012).
46. Taubert, D. et al. Impact of P-glycoprotein on clopidogrel absorption. Clin. Pharmacol. Ther. 80, 486-501 (2006).
47. Lewis, J.P. et al. The functional G143E variant of carboxylesterase 1 is associated with increased clopidogrel active metabolite levels and greater clopidogrel response. Pharmacogenet. Genomics 23, 1-8 (2013).
48. Lewis, J.P. & Shuldiner, A.R. Paraoxonase 1 Q192R variant and clopidogrel efficacy: fact or fiction? Circ. Cardiovasc. Genet. 5, 153-155 (2012).
49. Mega, J.L. et al. Cytochrome P450 genetic polymorphisms and the response to prasugrel: relationship to pharmacokinetic, pharmacodynamic, and clinical outcomes. Circulation 119, 2553-2560 (2009).
50. Cuisset, T. et al. CYP2C19*2 and*17 alleles have a significant impact on platelet response and bleeding risk in patients treated with prasugrel after acute coronary syndrome. JACC. Cardiovasc. Interv. 5, 1280-1287 (2012).
51. Wallentin, L. et al.; PLATO investigators. Effect of CYP2C19 and ABCB1 single nucleotide polymorphisms on outcomes of treatment with ticagrelor versus clopidogrel for acute coronary syndromes: a genetic substudy of the PLATO trial. Lancet 376, 1320-1328 (2010).
52. Verschuren, J.J.W. et al. A systematic review on pharmacogenetics in cardiovascular disease: is it ready for clinical application? Eur. Heart J. 33, 165-175 (2012).
53. Wilke, R.A. et al.; Clinical Pharmacogenomics Implementation Consortium (CPIC). The clinical pharmacogenomics implementation consortium: CPIC guideline for SLCO1B1 and simvastatin-induced myopathy. Clin. Pharmacol. Ther. 92, 112-117 (2012).
54. Carr, D.F. et al. SLCO1B1 genetic variant associated with statin-induced myopathy: a proof-of-concept study using the clinical practice research datalink. Clin. Pharmacol. Ther. 94, 695-701 (2013).
55. Voora, D. et al. The SLCO1B1*5 genetic variant is associated with statininduced side effects. J. Am. Coll. Cardiol. 54, 1609-1616 (2009).
56. Danik, J.S., Chasman, D.I., MacFadyen, J.G., Nyberg, F., Barratt, B.J. & Ridker, P.M. Lack of association between SLCO1B1 polymorphisms and clinical myalgia following rosuvastatin therapy. Am. Heart J. 165, 1008-1014 (2013).
57. Mammen, A.L. et al. Increased frequency of DRB1*11:01 in antihydroxymethylglutaryl-coenzyme A reductase-associated autoimmune myopathy. Arthritis Care Res. (Hoboken). 64, 1233-1237 (2012).
58. DeGorter, M.K. et al. Clinical and pharmacogenetic predictors of circulating atorvastatin and rosuvastatin concentrations in routine clinical care. Circ. Cardiovasc. Genet. 6, 400-408 (2013).
59. Johnson, J.A. & Liggett, S.B. Cardiovascular pharmacogenomics of adrenergic receptor signaling: clinical implications and future directions. Clin. Pharmacol. Ther. 89, 366-378 (2011).
60. O'Connor, C.M. et al. Combinatorial pharmacogenetic interactions of bucindolol and 1, a2C adrenergic receptor polymorphisms. PLoS ONE 7, e44324 (2012).
61. Liu, W.N. et al. ?1 adrenergic receptor polymorphisms and heart failure: a meta-analysis on susceptibility, response to ?-blocker therapy and prognosis. PLoS ONE 7, e37659 (2012).
62. Smart, N.A., Kwok, N., Holland, D.J., Jayasighe, R. & Giallauria, F. Bucindolol: a pharmacogenomic perspective on its use in chronic heart failure. Clin. Med. Insights. Cardiol. 5, 55-66 (2011).
63. Johnson, A.D. et al.; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium; Global BPgen Consortium; Women's Genome Health Study. Association of hypertension drug target genes with blood pressure and hypertension in 86,588 individuals. Hypertension 57, 903-910 (2011).
64. Pacanowski, M.A. et al.; INVEST Investigators. beta-adrenergic receptor gene polymorphisms and beta-blocker treatment outcomes in hypertension. Clin. Pharmacol. Ther. 84, 715-721 (2008).
65. Brugts, J.J. & Simoons, M.L. Genetic influences of angiotensin-converting enzyme inhibitor response: an opportunity for personalizing therapy? Expert Rev. Cardiovasc. Ther. 10, 1001-1009 (2012).
66. Pare, G. et al. Genetic variants associated with angiotensin-converting enzyme inhibitor-associated angioedema. Pharmacogenet. Genomics 23, 470-478 (2013).
67. Mahmoudpour, S.H. et al. Pharmacogenetics of ACE inhibitor-induced angioedema and cough: a systematic review and meta-analysis. Pharmacogenomics 14, 249-260 (2013).
68. Behr, E.R. & Roden, D. Drug-induced arrhythmia: pharmacogenomic prescribing? Eur. Heart J. 34, 89-95 (2013).
69. A bbott, G.W. KCNE genetics and pharmacogenomics in cardiac arrhythmias: much ado about nothing? Expert Rev. Clin. Pharmacol. 6, 49-60 (2013).
70. Paulussen, A.D. et al. Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J. Mol. Med. 82, 182-188 (2004).
71. Ramirez, A.H. et al. Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes. Pharmacogenomics J. 13, 325-329 (2013).
72. Behr, E.R. et al. The International Serious Adverse Events Consortium (iSAEC) phenotype standardization project for drug-induced torsades de pointes. Eur. Heart J. 34, 1958-1963 (2013).
73. Haugaa, K.H., Bos, J.M., Tarrell, R.F., Morlan, B.W., Caraballo, P.J. & Ackerman, M.J. Institution-wide QT alert system identifies patients with a high risk of mortality. Mayo Clin. Proc. 88, 315-325 (2013).
74. Perez-Andreu, V. et al. miR-133a regulates vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1), a key protein in the vitamin K cycle. Mol. Med. 18, 1466-1472 (2012).
75. Haiser, H.J., Gootenberg, D.B., Chatman, K., Sirasani, G., Balskus, E.P. & Turnbaugh, P.J. Predicting and manipulating cardiac drug inactivation by the human gut bacterium Eggerthella lenta. Science 341, 295-298 (2013).