Pharmacogenetics of the human beta-adrenergic receptors

Pharmacogenomics Journal

Volumn 7, Issue 1, 2007, Pages 29-37

  Taylor, M R G ^a  

^a UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; BETA 1 ADRENERGIC RECEPTOR; BETA 2 ADRENERGIC RECEPTOR; BETA 3 ADRENERGIC RECEPTOR; BETA 3 ADRENERGIC RECEPTOR STIMULATING AGENT; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; BETA ADRENERGIC RECEPTOR STIMULATING AGENT; CELL SURFACE RECEPTOR; GLUTAMINE; GLYCINE; METOPROLOL; PLACEBO; SALBUTAMOL; SERINE;

ADRENERGIC SYSTEM; AMINO ACID SUBSTITUTION; ASTHMA; CARDIOVASCULAR DISEASE; CLINICAL TRIAL; DIABETES MELLITUS; DISEASE ASSOCIATION; DRUG TARGETING; ENERGY EXPENDITURE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HAPLOTYPE; HEART FAILURE; HOMOZYGOSITY; HUMAN; HYPERTENSION; IN VITRO STUDY; INDIVIDUALIZATION; LIPOLYSIS; MEDICAL RESEARCH; NONHUMAN; OBESITY; PATHOGENESIS; PATIENT CARE; PHARMACOGENETICS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN INTERACTION; REVIEW; RISK FACTOR; TREATMENT OUTCOME;

HUMANS; PHARMACOGENETICS; POLYMORPHISM, GENETIC; RECEPTORS, ADRENERGIC, BETA; RECEPTORS, ADRENERGIC, BETA-1; RECEPTORS, ADRENERGIC, BETA-2;

EID: 33847312219     PISSN: 1470269X     EISSN: 14731150     Source Type: Journal    
DOI: 10.1038/sj.tpj.6500393     Document Type: Review

References (96)

1. Busse W, Banks-Schlegel S, Noel P, Ortega H, Taggart V, Elias J. Future research directions in asthma: An NHLBI Working Group report. Am J Respir Crit Care Med 2004; 170: 683-690.
2. Palmer LJ, Burton PR, James AL, Musk AW, Cookson WO. Familial aggregation and heritability of asthma-associated quantitative traits in a population-based sample of nuclear families. Eur J Hum Genet 2000; 8: 853-860.
3. Palmer LJ, Cookson WO. Genomic approaches to understanding asthma. Genome Res 2000; 10: 1280-1287.
4. Palmer LJ, Silverman ES, Weiss ST, Drazen JM. Pharmacogenetics of asthma. Am J Respir Crit Care Med 2002; 165: 861-866.
5. Fuster V, Wayne A, O'Rourke R (eds). Hurst's The Heart, 11th edn McGraw-Hill: New York, 2004.
6. Port JD, Bristow MR. Altered beta-adrenergic receptor gene regulation and signaling in chronic heart failure. J Mol Cell Cardiol 2001; 33: 887-905.
7. Bristow MR. Changes in myocardial and vascular receptors in heart failure. J Am Coll Cardiol 1993; 22(4 Suppl A): 61A-71A.
8. Esler M, Kaye D, Lambert G, Esler D, Jennings G. Adrenergic nervous system in heart failure. Am J Cardiol 1997; 80: 7L-14L.
9. Tonolo G, Melis MG, Secchi G, Atzeni MM, Angius MF, Carboni A et al. Association of Trp64Arg beta 3-adrenergic-receptor gene polymorphism with essential hypertension in the Sardinian population. J Hypertens 1999; 17: 33-38.
10. Vendrell J, Gutierrez C, Broch M, Fernandez-Real JM, Aguilar C, Richart C. Beta 3-adrenoreceptor gene polymorphism and leptin. Lack of relationship in type 2 diabetic patients. Clin Endocrinol (Oxf) 1998; 49: 679-683.
11. Weiser M, Frishman WH, Michaelson MD, Abdeen MA. The pharmacologic approach to the treatment of obesity. J Clin Pharmacol 1997; 37: 453-473.
12. Gauthier C, Langin D, Balligand JL. Beta 3-adrenoceptors in the cardiovascular system. Trends Pharmacol Sci 2000; 21: 426-431.
13. Gauthier C, Leblais V, Moniotte S, Langin D, Balligand JL. The negative inotropic action of catecholamines: Role of beta 3-adrenoceptors. Can J Physiol Pharmacol 2000; 78: 681-690.
14. Taylor MR, Bristow MR. The emerging pharmacogenomics of the beta-adrenergic receptors. Congest Heart Fail 2004; 110: 281-288.
15. Lelias JM, Kaghad M, Rodriguez M, Chalon P, Bonnin J, Dupre I et al. Molecular cloning of a human beta 3-adrenergic receptor cDNA. FEBS Lett 1993; 324: 127-130.
16. Granneman JG, Lahners KN, Rao DD. Rodent and human beta 3-adrenergic receptor genes contain an intron within the protein-coding block. Mol Pharmacol 1992; 42: 964-970.
17. van Spronsen A, Nahmias C, Krief S, Briend-Sutren MM, Strosberg AD, Emorine LJ. The promoter and intron/exon structure of the human and mouse beta 3-adrenergic-receptor genes. Eur J Biochem 1993; 213: 1117-1124.
18. Johnson JA, Terra SG. beta-Adrenergic receptor polymorphisms; cardiovascular disease associations and pharmacogenetics. Pharm Res 2002; 19: 1779-1787.
19. Farfel Z, Bourne HR, Iiri T. The expanding spectrum of G protein diseases. N Engl J Med 1999; 340: 1012-1020.
20. Moore JD, Mason DA, Green SA, Hsu J, Liggett SB. Racial differences in the frequencies of cardiac beta(1)-adrenergic receptor polymorphisms: analysis of c145A>G and c1165G > C. Hum Mutat 1999; 14: 271.
21. Podlowski S, Wenzel K, Luther HP, Muller J, Bramlage P, Baumann G et al. Beta1-adrenoceptor gene variations: A role in idiopathic dilated cardiomyopathy? J Mol Med 2000; 78: 87-93.
22. Borjesson M, Magnusson Y, Hjalmarson A, Andersson B. A novel polymorphism in the gene coding for the beta(1)-adrenergic receptor associated with survival in patients with heart failure. Eur Heart J 2000; 21: 1853-1858.
23. Bengtsson K, Orho-Melander M, Melander O, Lindblad U, Ranstam J, Rastam L et al. BM(2)-adrenergic receptor gene variation and hypertension in subjects with type 2 diabetes. Hypertension 2001; 37:1303-1308.
24. Bengtsson K, Melander O, Orho-Melander M, Lindblad U, Ranstam J, Rastam L et al. Polymorphism in the beta(1)-adrenergic receptor gene and hypertension. Circulation 2001; 104: 187-190.
25. Tesson F, Charron P, Peuchmaurd M, Nicaud V, Cambien F, Tiret L et al. Characterization of a unique genetic variant in the beta1-adrenoceptor gene and evaluation of its role in idiopathic dilated cardiomyopathy. CARDIGENE Group. J Mol Cell Cardiol 1999; 31: 1025-1032.
26. Yamada K, lshiyama-Shigemoto S, Ichikawa F, Yuan X, Koyanagi A, Koyama W et al. Polymorphism in the 5′-leader cistron of the beta2-adrenergic receptor gene associated with obesity and type 2 diabetes. J Clin Endocrinol Metab 1999; 84: 1754-1757.
27. Small KM, Wagoner LE, Levin AM, Kardia SL, Liggett SB. Synergistic polymorphisms of beta1- and alpha2C-adrenergic receptors and. N Engl J Med 2002; 347: 1135-1142.
28. Reihsaus E, Innis M, MacIntyre N, Liggett SB. Mutations in the gene encoding for the beta 2-adrenergic receptor in normal and asthmatic subjects. Am J Respir Cell Mol Biol 1993; 8: 334-339.
29. Large V, Hellstrom L, Reynisdottir S, Lonnqvist F, Eriksson P, Lannfelt L et al. Human beta-2 adrenoceptor gene polymorphisms are highly frequent in obesity and associate with altered adipocyte beta-2 adrenoceptor function. J Clin Invest 1997; 100: 3005-3013.
30. Buscher R, Eilmes KJ, Grasemann H, Torres B, Knauer N, Sroka K et al. beta2 adrenoceptor gene polymorphisms in cystic fibrosis lung disease. Pharmacogenetics 2002; 12: 347-353.
31. Herrmann SM, Nicaud V, Tiret L, Evans A, Kee F, Ruidavets JB et al. Polymorphisms of the beta2-adrenoceptor (ADRB2) gene and essential hypertension: The ECTIM and PEGASE studies. J Hypertens 2002; 20: 229-235.
32. Ulbrecht M, Hergeth MT, Wjst M, Heinrich J, Bickeboller H, Wichmann HE et al. Association of beta(2)-adrenoreceptor variants with bronchial hyperresponsiveness. Am J Respir Crit Care Med 2000; 161(2 Part 1): 469-474.
33. Wood AJ. Variability in beta-adrenergic receptor response in the vasculature: Role of receptor polymorphism. J Allergy Clin Immunol 2002; 110(6 Suppl): S318-S321.
34. Xie HG, Stein CM, Kim RB, Xiao ZS, He N, Zhou HH et al. Frequency of functionally important beta-2 adrenoceptor polymorphisms varies markedly among African-American, Caucasian and Chinese individuals. Pharmacogenetics 1999; 9: 511-516.
35. Liggett SB. beta(2)-adrenergic receptor pharmacogenetics. Am J Respir Crit Care Med 2000; 161(3 Part 2): S197-S201.
36. Liggett SB. Pharmacogenetics of beta-1- and beta-2-adrenergic receptors. Pharmacology 2000; 61: 167-173.
37. Liggett SB, Wagoner LE, Craft LL, Hornung RW, Hoit BD, McIntosh TC et al. The ile164 beta2-adrenergic receptor polymorphism adversely affects the outcome of congestive heart failure. J Clin Invest 1998; 102: 1534-1539.
38. McGraw DW, Forbes SL, Kramer LA, Liggett SB. Polymorphisms of the 5′ leader cistron of the human beta2-adrenergic receptor regulate receptor expression. J Clin Invest 1998; 102: 1927-1932.
39. Fujisawa T, Ikegami H, Yamato E, Hamada Y, Kamide K, Rakugi H et al. Trp64Arg mutation of beta 3-adrenergic receptor in essential hypertension: Insulin resistance and the adrenergic system. Am J Hypertens 1997; 10: 101-105.
40. Hein L. Physiological significance of beta-adrenergic receptor polymorphisms: In-vivo or in-vitro veritas? Pharmacogenetics 2001; 11: 187-189.
41. Mason DA, Moore JD, Green SA, Liggett SB. A gain-of-function polymorphism in a G-protein coupling domain of the human beta1-adrenergic receptor. J Biol Chem 1999; 274: 12670-12674.
42. Maqbool A, Hall AS, Ball SG, Balmforth AJ. Common polymorphisms of beta1-adrenoceptor: Identification and rapid screening assay. Lancet 1999; 353: 897.
43. dbSNP database.
44. Drysdale CM, McGraw DW, Stack CB, Stephens IC, Judson RS, Nandabalan K et al. Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc Natl Acad Sci U S A 2000; 97: 10483-10488.
45. Chamberlain PD, Jennings KH, Paul F, Cordell J, Berry A, Holmes SD et al. The tissue distribution of the human beta3-adrenoceptor studied using a monoclonal antibody: Direct evidence of the beta3-adrenoceptor in human adipose tissue, atrium and skeletal muscle. Int J Obes Relat Metab Disord 1999; 23: 1057-1065.
46. Perfetti R, Hui H, Chamie K, Binder S, Seibert M, McLenithan J et al. Pancreatic beta-cells expressing the Arg64 variant of the beta(3)-adrenergic receptor exhibit abnormal insulin secretory activity. J Mol Endocrinol 2001; 27: 133-144.
47. Zhang C, Williams MA, Edwards KL, Austin MA. Trp64Arg polymorphism of the beta3-adrenergic receptor gene, pre-pregnancy obesity and risk of pre-eclampsia. J Matern Fetal Neonatal Med 2005; 17: 19-28.
48. Bachman ES, Dhillon H, Zhang CY, Cinti S, Bianco AC, Kobilka BK et al. betaAR signaling required for diet-induced thermogenesis and obesity resistance. Science 2002; 297: 843-845.
49. Moniotte S, Kobzik L, Feron O, Trochu JN, Gauthier C, Balligand JL. Upregulation of beta(3)-adrenoceptors and altered contractile response to inotropic amines in human failing myocardium. Circulation 2001; 103: 1649-1655.
50. Emorine L, Blin N, Strosberg AD. The human beta 3-adrenoceptor the search for a physiological function. Trends Pharmacol Sci 1994; 15: 3-7.
51. Langin D, Tavernier G, Lafontan M. Regulation of beta 3-adrenoceptor expression in white fat cells. Fundam Clin Pharmacol 1995; 9: 97-106.
52. Allison DB, Heo M, Faith MS, Pietrobelli A. Meta-analysis of the association of the Trp64Arg polymorphism in the beta3 adrenergic receptor with body mass index. Int J Obes Relat Metab Disord 1998; 22: 559-566.
53. Strosberg AD. Association of beta 3-adrenoceptor polymorphism with obesity and diabetes: Current status. Trends Pharmacol Sci 1997; 18: 449-454.
54. Walston J, Silver K, Bogardus C, Knowler WC, Celi FS, Austin S et al. Time of onset of non-insulin-dependent diabetes mellitus and genetic variation in the beta 3-adrenergic-receptor gene. N Engl J Med 1995; 333: 343-347.
55. Garcia-Rubi E, Calles-Escandon J. Insulin resistance and type 2 diabetes mellitus: Its relationship with the beta 3-adrenergic receptor. Arch Med Res 1999; 30: 459-464.
56. Arner P, Hoffstedt J. Adrenoceptor genes in human obesity. J Intern Med 1999; 245: 667-672.
57. Leineweber K, Buscher R, Bruck H, Brodde OE. Beta-adrenoceptor polymorphisms. Naunyn Schmiedebergs Arch Pharmacol 2004; 369: 1-22.
58. Rathz DA, Brown KM, Kramer LA, Liggett SB. Amino acid 49 polymorphisms of the human beta1-adrenergic receptor affect agonist-promoted trafficking. J Cardiovasc Pharmacol 2002; 39: 155-160.
59. Levin MC, Marullo S, Muntaner O, Andersson B, Magnusson Y. The myocardium-protective Gly-49 variant of the beta 1-adrenergic receptor. J Biol Chem 2002; 277: 30429-30435.
60. Green SA, Turki J, Innis M, Liggett SB. Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties. Biochemistry 1994; 33: 9414-9419.
61. Dishy V, Sofowora GG, Xie HG, Kim RB, Byrne DW, Stein CM et al. The effect of common polymorphisms of the beta2-adrenergic receptor on agonist-mediated vascular desensitization. N Engl J Med 2001; 345: 1030-1035.
62. Green SA, Cole G, Jacinto M, Innis M, Liggett SB. A polymorphism of the human beta 2-adrenergic receptor within the fourth transmembrane domain alters ligand binding and functional properties of the receptor. J Biol Chem 1993; 268: 23116-23121.
63. Turki J, Lorenz JN, Green SA, Donnelly ET, Jacinto M, Liggett SB. Myocardial signaling defects and impaired cardiac function of a human beta 2-adrenergic receptor polymorphism expressed in transgenic mice. Proc Natl Acad Sci USA 1996; 93: 10483-10488.
64. Parola AL, Kobilka BK. The peptide product of a 5′ leader cistron in the beta 2 adrenergic receptor mRNA inhibits receptor synthesis. J Biol Chem 1994; 269: 4497-4505.
65. Johnatty SE, Abdellatif M, Shimmin L, Clark RB, Boerwinkle E. Beta2 adrenergic receptor 5′ haplotypes influence promoter activity. Br J Pharmacol 2002; 137: 1213-1216.
66. Ranade K, Jorgenson E, Sheu WH, Pei D, Hsiung CA, Chiang FT et al. A polymorphism in the betal adrenergic receptor is associated with resting heart rate. Am J Hum Genet 2002; 70: 935-942.
67. Humma LM, Puckett BJ, Richardson HE, Terra SG, Andrisin TE, Lejeune BL et al. Effects of beta1-adrenoceptor genetic polymorphisms on resting hemodynamics in patients undergoing diagnostic testing for ischemia. Am J Cardiol 2001; 88: 1034-1037.
68. Karlsson J, Lind L, Hallberg P, Michaelsson K, Kurland L, Kahan T et al. Betal1-adrenergic receptor gene polymorphisms and response to beta1-adrenergic receptor blockade in patients with essential hypertension. Clin Cardiol 2004; 27: 347-350.
69. Magnusson Y, Levin MC, Eggertsen R, Nystrom E, Mobini R, Schaufelberger M et al Ser49Gly of beta1-adrenergic receptor is associated with effective beta-blocker dose in dilated cardiomyopathy. Clin Pharmacol Ther 2005; 78: 221-231.
70. Mialet Perez J, Rathz DA, Petrashevskaya NN, Hahn HS, Wagoner LE, Schwartz A et al. Beta 1-adrenergic receptor polymorphisms confer differential function and predisposition to heart failure. Nat Med 2003; 9: 1300-1305.
71. Wills-Karp M, Ewart SL. Time to draw breath: Asthma-susceptibility genes are identified. Nat Rev Genet 2004; 5: 376-387.
72. Contopoulos-Ioannidis DG, Manoli EN, Ioannidis JP. Meta-analysis of the association of beta2-adrenergic receptor polymorphisms with asthma phenotypes. J Allergy Clin Immunol 2005; 115: 963-972.
73. Israel E, Chinchilli VM, Ford JG, Boushey HA, Cherniack R, Craig TJ et al. Use of regularly scheduled albuterol treatment in asthma: genotype-stratified, randomised, placebo-controlled cross-over trial. Lancet 2004; 364: 1505-1512.
74. Martinez FD, Graves PE, Baldini M, Solomon S, Erickson R. Association between genetic polymorphisms of the beta2-adrenoceptor and response to albuterol in children with and without a history of wheezing. J Clin Invest 1997; 100: 3184-3188.
75. Rosmond R, Ukkola O, Chagnon M, Bouchard C, Bjorntorp P. Polymorphisms of the beta2-adrenergic receptor gene (ADRB2) in relation to cardiovascular risk factors in men. J Intern Med 2000; 248: 239-244.
76. Bray MS, Krushkal J, Li L, Ferrell R, Kardia S, Sing CF et al. Positional genomic analysis identifies the beta(2)-adrenergic receptor gene as a susceptibility locus for human hypertension. Circulation 2000; 101: 2877-2882.
77. Bristow MR, Ginsburg R, Minobe W, Cubicciotti RS, Sageman WS, Lurie K et al. Decreased catecholamine sensitivity and beta-adrenergic-receptor density in failing human hearts. N Engl J Med 1982; 307: 205-211.
78. Bristow MR, Ginsburg R, Umans V, Fowler M, Minobe W, Rasmussen R et al. Beta 1- and beta 2-adrenergic-receptor subpopulations in nonfailing and failing human ventricular myocardium: Coupling of both receptor subtypes to muscle contraction and selective beta 1-receptor down-regulation in heart failure. Circ Res 1986; 59: 297-309.
79. Brodde OE, Schuler S, Kretsch R, Brinkmann M, Borst HG, Hetzer R et al. Regional distribution of beta-adrenoceptors in the human heart: coexistence of functional beta 1- and beta 2-adrenoceptors in both atria and ventricles in severe congestive cardiomyopathy. J Cardiovasc Pharmacol 1986; 8: 1235-1242.
80. Wagoner LE, Craft LL, Singh B, Suresh DP, Zengel PW, McGuire N et al. Polymorphisms of the beta(2)-adrenergic receptor determine exercise capacity in patients with heart failure. Circ Res 2000; 86: 834-840.
81. Kaye DM, Smirk B, Finch S, Williams C, Esler MD. Interaction between cardiac sympathetic drive and heart rate in heart failure: Modulation by adrenergic receptor genotype. J Am Coll Cardiol 2004; 44: 2008-2015.
82. Kaye DM, Smirk B, Williams C, Jennings G, Esler M, Hoist D. Beta-adrenoceptor genotype influences the response to carvedilol in patients with congestive heart failure. Pharmacogenetics 2003; 13: 379-382.
83. Brain Jr N, Dominiczak AF. Pharmacogenomics in hypertension: Present practicalities and future potential. J Hypertens 2005; 23: 1327-1329.
84. Mellen PB, Herrington DM. Pharmacogenomics of blood pressure response to antihypertensive treatment. J Hypertens 2005; 23: 1311-1325.
85. Sandilands A, Yeo G, Brown MJ, O'Shaughnessy KM. Functional responses of human beta1 adrenoceptors with defined haplotypes for the common 389R>G and 49S>G polymorphisms. Pharmacogenetics 2004; 14: 343-349.
86. Defoor J, Martens K, Zielinska D, Matthijs G, Van Nerum H, Schepers D et al. The CAREGENE study: Polymorphisms of (beta)1-adrenoceptor gene and aerobic power in coronary artery disease. Eur Heart J 2006; 27: 808-816.
87. Bruck H, Leineweber K, Park J, Weber M, Heusch G, Philipp T et al. Human beta2-adrenergic receptor gene haplotypes and venodilation in vivo. Clin Pharmacol Ther 2005; 78: 232-238.
88. Oostendorp J, Postma DS, Volders H, Jongepier H, Kauffman HF, Boezen HM et al. Differential desensitization of homozygous haplotypes of the beta2-adrenergic receptor in lymphocytes. Am J Respir Crit Care Med 2005; 172: 322-328.
89. Petrone A, Zavarella S, Iacobellis G, Zampetti S, Vania A, Di Pietro S et al. Association of beta2 adrenergic receptor polymorphisms and related haplotypes with triglyceride and LDL-cholesterol levels. Eur J Hum Genet 2006; 14: 94-100.
90. Zee RY, Cook NR, Reynolds R, Cheng S, Ridker PM. Haplotype analysis of the beta2 adrenergic receptor gene and risk of myocardial infarction in humans. Genetics 2005; 169: 1583-1587.
91. Muszkat M, Stein CM. Pharmacogenetics and response to beta-adrenergic receptor antagonists in heart failure. Clin Pharmacol Ther 2005; 77: 123-126.
92. Cascorbi I, Paul M, Kroemer HK. Pharmacogenomics of heart failure - focus on drug disposition and action. Cardiovasc Res 2004; 64: 32-39.
93. La Rosee K, Huntgeburth,M, Rosenkranz S, Bohm M, Schnabel P. The Arg389Gly beta1-adrenoceptor gene polymorphism determines contractile response to catecholamines. Pharmacogenetics 2004; 14: 711-716.
94. Terra SG, Hamilton KK, Pauly DF, Lee CR, Patterson JH, Adams KF et al. Beta1-adrenergic receptor polymorphisms and left ventricular remodeling changes in response to beta-blocker therapy. Pharmacogenet Genomics 2005; 15: 227-234.
95. Terra SG, Pauly DF, Lee CR, Patterson JH, Adams KF, Schofield RS et al. beta-Adrenergic receptor polymorphisms and responses during titration of metoprolol controlled release/extended release in heart failure. Clin Pharmacol Ther 2005; 77: 127-137.
96. Litonjua AA, Silverman EK, Tantisira KG, Sparrow D, Sylvia JS, Weiss ST. Beta 2-adrenergic receptor polymorphisms and haplotypes are associated with airways hyperresponsiveness among nonsmoking men. Chest 2004; 126: 66-74.