Pharmacogenetic effect of an endothelin-1 haplotype on response to bucindolol therapy in chronic heart failure

Pharmacogenetics and Genomics

Volumn 19, Issue 1, 2009, Pages 35-43

  Taylor, Matthew R G ^a,c   Slavov, Dobromir ^a   Humphrey, Kurt ^a   Zhao, Lan ^b   Cockroft, Jennifer ^b   Zhu, Xiao ^a   Lavori, Philip ^b,c   Bristow, Michael R ^a   Mestroni, Luisa ^a   Lazzeroni, Laura C ^d  

^a UNIVERSITY OF COLORADO   (United States)

^b Veterans Affairs Cooperative Studies Program

^c Department of Health Research and Policy ^*  (United States)

^d STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

blockers; Endothelin; Genetics; Heart failure; Pharmacogenetics

Indexed keywords

BUCINDOLOL; ENDOTHELIN 1;

ARTICLE; CAUSE OF DEATH; FEMALE; GENE DOSAGE; GENE LINKAGE DISEQUILIBRIUM; GENETIC DIFFERENCE; GENOTYPE; HAPLOTYPE; HEART FAILURE; HIGH RISK POPULATION; HOSPITALIZATION; HUMAN; MAJOR CLINICAL STUDY; MALE; PHARMACOGENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED STATES;

ADRENERGIC BETA-ANTAGONISTS; AGED; ASPARTIC ENDOPEPTIDASES; ENDOTHELIN-1; ENDOTHELINS; FEMALE; HAPLOTYPES; HEART FAILURE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; METALLOENDOPEPTIDASES; MIDDLE AGED; MODELS, GENETIC; PHARMACOGENETICS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPANOLAMINES; PROPORTIONAL HAZARDS MODELS; RECEPTORS, ENDOTHELIN;

EID: 58149267604     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e328317cc57     Document Type: Article

References (47)

1. MERIT-HF Study Group. Effect of metoprolol CR/XL in chronic heart failure: Metoprolol CR/XL Randomised Intervention Trial in Congestive Heart Failure (MERIT-HF). Lancet 1999; 353:2001-2007. http://www.ncbi.nlm.nih.gov/pubmed 10376614?ordinalpos7Sitool = EntrezSystem2.PEntrez.Pubmed. Pubmed-ResultsPanel.Pubmed-DefaurtReportPanel. Pubmed-RVDocSum
2. Packer M, Bristow MR, Conn JN, Colucci WS, Fowler MB, Gilbert EM, et al. The effect of carvediiol on morbidity and mortality in patients with chronic heart failure. U.S. Carvediiol Heart Failure Study Group. N Engl J Med 1996; 334:1349-1355.
3. Packer M, Coats AJ, Fowler MB, Katus HA, Krum H, Mohacsi P, et al. Effect of carvediiol on survival in severe chronic heart failure. N Engl J Med 2001; 344:1651-1658.
4. Wilkinson GR. Drug metabolism and variability among patients in drug response. N Engl J Med 2005; 352:2211-2221.
5. Evans WE, Relling MV. Moving towards individualized medicine with pharmacogenomics. Nature 2004; 429:464-468.
6. Weinshilboum R. Inheritance and drug response. N Engl J Med 2003; 348:529-537.
7. Liggett SB, Mialet-Perez J, Thaneemit-Chen S, Weber SA, Greene SM, Hodne D, 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 2006; 103:11288-11293.
8. Nambi P, Clozel M, Feuerstein G. Endothelin and heart failure. Heart Fail Rev 2001; 6:335-340.
9. Levin ER. Endothelins. N Engl J Med 1995; 333:356-363.
10. Miyauchi T, Masaki T. Pathophysiology of endothelin in the cardiovascular system. Annu Rev Physiol 1999; 61:391-415.
11. Dzau VJ. The role of mechanical and humoral factors in growth regulation of vascular smooth muscle and cardiac myocytes. Curr Opin Nephrol Hypertens 1993; 2:27-32.
12. Yanagisawa M, Kurihara H, Kimura S, Tomobe Y, Kobayashi M, Mitsui Y, et al. A novel potent vasoconstrictor peptide produced by vascular endothelial cells. Nafure 1988; 332:411-415.
13. Inoue A, Yanagisawa M, Kimura S, Kasuya Y, Miyauchi T, Goto K, et al. The human endothelin family: three structurally and pharmacologically distinct isopeptides predicted by three separate genes. Proc Natl Acad Sci U S A 1989;86:2863-2867.
14. Stevens PA, Brown MJ. Genetic variability of the ET-1 and the ETA receptor genes in essential hypertension. J Cardiovasc Pharmacol 1995; 26 (Suppl 3):S9-S12.
15. Vasku A, Spinarova L, Goldbergova M, Muzik J, Spinar J, Vrtovec J, et al. The double heterozygote of two endothelin-1 gene polymorphisms (G8002A and -3A/-4A) is related to big endothelin levels in chronic heart failure. Exp Mol Pathol 2002; 73:230-233.
16. Brugada R, Kelsey W, Lechin M, Zhao G, Yu QT, Zoghbi W, et al. Role of candidate modifier genes on the phenotypic expression of hypertrophy in patients with hypertrophic cardiomyopathy. J Investig Med 1997; 45: 542-551.
17. Krum H, Gu A, Wilshire-Clement M, Sackner-Bernstein J, Goldsmith R, Medina N, et al. Changes in plasma endothelin-1 levels reflect clinical response to beta-blockade in chronic heart failure. Am Heart J 1996; 131:337-341.
18. Spieker LE, Noll G, Ruschitzka FT, Luscher TF. Endothelin receptor antagonists in congestive heart failure: a new therapeutic principle for the future? J Am Coll Cardiol 2001; 37:1493-1505.
19. Spieker LE, Luscher TF. Will endothelin receptor antagonists have a role in heart failure? Med Clin North Am 2003; 87:459-474.
20. Giannessi D, Del Ry S, Vitale RL. The role of endothelins and their receptors in heart failure. Pharmacol Res 2001; 43:111-126.
21. lemitsu M, Maeda S, Otsuki T, Sugawara J, Tanabe T, Jesmin S, et al. Polymorphism in endothelin-related genes limits exercise-induced decreases in arterial stiffness in older subjects. Hypertension 2006; 47:928-936.
22. Kozak M, Izakovicova Holla L, Krivan L, Vaskuo A, Sepsi M, Semrad B, et al. Endothelin-1 gene polymorphism in patients with malignant arrhythmias. J Cardiovasc Pharmacol 2004; 44:S92-S95.
23. Jin JJ, Nakura J, Wu Z, Yamamoto M, Abe M, Tabara Y, et al. Association of endothelin-1 gene variant with hypertension. Hypertension 2003; 41: 163-167.
24. Iglarz M, Benessiano J, Philip I, Vuillaumier-Barrot S, Lasocki S, Hvass U, et al. Preproendothelin-1 gene polymorphism is related to a change in vascular reactivity in the human mammary artery in vitro. Hypertension 2002; 39:209-213.
25. Tiret L, Poirier O, Hallet V, McDonagh TA, Morrison C, McMurray JJ, et al. The Lys198Asn polymorphism in the endothelin-1 gene is associated with blood pressure in overweight people. Hypertension 1999; 33:1169-1174.
26. Herrmann S, Schmidt-Petersen K, Pfeifer J, Perrot A, Bit-Avragim N, Eichhorn C, et al. A polymorphism in the endothelin-A receptor gene predicts survival in patients with idiopathic dilated cardiomyopathy. Eur Heart J 2001; 22:1948-1953.
27. Charron P, Tesson F, Poirier O, Nicaud V, Peuchmaurd M, Tiret L, et al. Identification of a genetic risk factor for idiopathic dilated cardiomyopathy. Involvement of a polymorphism in the endothelin receptor type A gene. CARDIGENE group. Eur Heart J 1999; 20:1587-1591.
28. Nicaud V, Poirier O, Behague I, Herrmann SM, Mallet C, Troesch A, et al. Polymorphisms of the endothelin-A and -B receptor genes in relation to blood pressure and myocardial infarction: the Etude Cas-Temoins sur I'lnfarctus du Myocarde (ECTIM) Study. Am J Hypertens 1999; 12: 304-310.
29. The Beta-Blocker Evaluation of Survival Trial Investigators. A trial of the beta-blocker bucindolol in patients with advanced chronic heart failure. N Engl J Med 2001; 344:1659-1667. http://www.ncbi.nlm.nih.gov/ pubmed11386264?ordinalpos3&itool=EntrezSystem2.PEntrez.Pubmed. Pubmed-ResultsPanel. Pubmed-DefaultReportPanel.Pubmed-RVDocSum.
30. The BEST Steering Committee. Design of the Beta-Blocker Evaluation Survival Trial (BEST). Am J Cardiol 1995; 75:1220-1223.
31. Gamier J, Gibrat JF, Robson B. GOR method for predicting protein secondary structure from amino acid sequence. Methods Enzymol 1996; 266:540-553.
32. Jones DT. Protein secondary structure prediction based on position-specific scoring matrices. J Mol Biol 1999; 292:195-202.
33. Pertea M, Lin X, Salzberg SL. GeneSplicer: a new computational method for splice site prediction. Nucleic Acids Res 2001; 29:1185-1190.
34. Brookes ST, Whitely E, Egger M, Smith GD, Mulheran PA, Peters TJ. Subgroup analyses in randomized trials: risks of subgroup-specific analyses; power and sample size for the interaction test. J Clin Epidemiol 2004; 57:229-236.
35. Westfall PH, Young SS. Resampling-based multiple testing. New York: Wiley; 1993. pp. 46-55.
36. Cascorbi I, Paul M, Kroemer HK. Pharmacogenomics of heart failure - focus on drug disposition and action. Cardiovasc Res 2004; 64:32-39.
37. Diefenbach K, Arjomand-Nahad F, Meisel C, Fietze I, Stangl K, Roots I, et al. Systematic analysis of sequence variability of the endothelin-1 gene: a prerequisite for association studies. Genet Test 2006; 10:163-168.
38. Kolbe D, Taylor J, Elnitski L, Eswara P, Li J, Miller W, et al. Regulatory potential scores from genome-wide three-way alignments of human, mouse, and rat. Genome Res 2004; 14:700-707.
39. King DC, Taylor J, Elnitski L, Chiaromonte F, Miller W, Hardison RC. Evaluation of regulatory potential and conservation scores for detecting cis-regulatory modules in aligned mammalian genome sequences. Genome Res 2005; 15:1051-1060.
40. Castro MG, Rodriguez-Pascual F, Magan-Marchal N, Reguero JR, Alonso- Montes C, Moris C, et al. Screening of the endothelinl gene (EDN1) in a cohort of patients with essential left ventricular hypertrophy. Ann Hum Genet 2007; 71:601-610.
41. Wei CM, Lerman A, Rodeheffer RJ, McGregor CG, Brandt RR, Wright S, et al. Endothelin in human congestive heart failure. Circulation 1994; 89:1580-1586.
42. McMurray JJ, Ray SG, Abdullah I, Dargie HJ, Morton JJ. Plasma endothelin in chronic heart failure. Circulation 1992; 85:1374-1379.
43. Hiroe M, Hirata Y, Fujita N, Umezawa S, Ito H, Tsujino M, et al. Plasma endothelin-1 levels in idiopathic dilated cardiomyopathy. Am J Cardiol 1991; 68:1114-1115.
44. Barden AE, Herbison CE, Beilin LJ, Michael CA, Walters BN, Van Bockxmeer FM. Association between the endothelin-1 gene Lys198Asn polymorphism blood pressure and plasma endothelin-1 levels in normal and pre-eclamptic pregnancy. J Hypertens 2001; 19:1775-1782.
45. Cordell HJ, Clayton DG. Genetic association studies. Lancet 2005; 366:1121-1131.
46. Hattersley AT, McCarthy Ml. What makes a good genetic association study? Lancet 2005; 366:1315-1323.
47. Newton-Cheh C, Hirschhorn JN. Genetic association studies of complex traits: design and analysis issues. Mutat Res 2005; 573:54-69.