Very important pharmacogene summary ADRB2

Pharmacogenetics and Genomics

Volumn 20, Issue 1, 2010, Pages 64-69

  Litonjua, Augusto A ^a   Gong, Li ^b   Duan, Qing Ling ^a   Shin, Jaekyu ^c   Moore, Mariellen J ^d   Weiss, Scott T ^a   Johnson, Julie A ^d   Klein, Teri E ^b   Altman, Russ B ^b,c  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF FLORIDA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ATENOLOL; BETA 2 ADRENERGIC RECEPTOR; BETA ADRENERGIC RECEPTOR STIMULATING AGENT; CYCLIC AMP; CYCLIC AMP DEPENDENT PROTEIN KINASE; GUANINE NUCLEOTIDE BINDING PROTEIN; INSULIN; ISOPRENALINE; METOPROLOL; SALBUTAMOL; SALMETEROL; TERBUTALINE;

ADRB2 GENE; AMINO ACID SUBSTITUTION; ASTHMA; BRONCHODILATATION; BRONCHUS MUSCLE; CARDIOVASCULAR FUNCTION; CARDIOVASCULAR RISK; CENTRAL NERVOUS SYSTEM FUNCTION; CLINICAL EVALUATION; CONGESTIVE HEART FAILURE; DEATH; DESENSITIZATION; DISEASE PREDISPOSITION; DOWN REGULATION; DRUG SENSITIVITY; ENDOCRINE FUNCTION; ENZYME ACTIVATION; GENE; GENE CONTROL; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HEART DEATH; HEART FUNCTION; HEART INFARCTION; HEART TRANSPLANTATION; HEART VENTRICLE ARRHYTHMIA; HOMOZYGOTE; HUMAN; HYPERTENSION; HYPERTRIGLYCERIDEMIA; IN VIVO STUDY; INDEL MUTATION; INSULIN BLOOD LEVEL; INSULIN RESISTANCE; LUNG FUNCTION; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; OXYGEN CONSUMPTION; PHARMACOGENETICS; PRESCRIPTION; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; PROTEIN TARGETING; REVIEW; RISK ASSESSMENT; RISK FACTOR; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; STROKE; TREATMENT RESPONSE;

GENETIC ASSOCIATION STUDIES; HUMANS; PHARMACOKINETICS; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, ADRENERGIC, BETA-2;

EID: 73949111257     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e328333dae6     Document Type: Review

References (69)

1. Kobilka BK, Dixon RA, Frielle T, Dohlman HG, Bolanowski MA, Sigal IS, et al. cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor. Proc Natl Acad Sci U S A 1987; 84:46-50.
2. Postma DS, Bleecker ER, Amelung PJ, Holroyd KJ, Xu J, Panhuysen CI, et al. Genetic susceptibility to asthma-bronchial hyperresponsiveness coinherited with a major gene for atopy. N Engl J Med 1995; 333:894-900.
3. Hawkins GA, Tantisira K, Meyers DA, Ampleford EJ, Moore WC, Klanderman B, et al. Sequence, haplotype, and association analysis of ADRbeta2 in a multiethnic asthma case-control study. Am J Respir Crit Care Med 2006; 174:1101-1109.
4. Ortega VE, Montealegre F, Chardon D, Meyers DA, Diallo AF, Bleecker ER. Sequencing of the beta2 adrenergic receptor gene in the Puerto Ricans with asthma. Am J Respir Crit Care Med 2007; 175:665-684.
5. 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.
6. 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.
7. Green SA, Turki J, Bejarano P, Hall IP, Liggett SB. Influence of beta 2-adrenergic receptor genotypes on signal transduction in human airway smooth muscle cells. Am J Respir Cell Mol Biol 1995; 13:25-33.
8. 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.
9. Leineweber K, Heusch G. beta(1) and beta(2)-Adrenoceptor polymorphisms and cardiovascular diseases. Br J Pharmacol 2009; 158:61-69.
10. Maxwell TJ, Ameyaw MM, Pritchard S, Thornton N, Folayan G, Githanga J, et al. Beta-2 adrenergic receptor genotypes and haplotypes in different ethnic groups. Int J Mol Med 2005; 16:573-580.
11. 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.
12. Thakkinstian A, McEvoy M, Minelli C, Gibson P, Hancox B, Duffy D, et al. Systematic review and meta-analysis of the association between beta2-adrenoceptor polymorphisms and asthma: a HuGE review. Am J Epidemiol 2005; 162:201-211.
13. Migita O, Noguchi E, Jian Z, Shibasaki M, Migita T, Ichikawa K, et al. ADRB2 polymorphisms and asthma susceptibility: transmission disequilibrium test and meta-analysis. Int Arch Allergy Immunol 2004; 134:150-157.
14. Hawkins GA, Weiss ST, Bleecker ER. Clinical consequences of ADRbeta2 polymorphisms. Pharmacogenomics 2008; 9:349-358.
15. Lanfear DE, Jones PG, Marsh S, Cresci S, McLeod HL, Spertus JA. Beta2-adrenergic receptor genotype and survival among patients receiving beta-blocker therapy after an acute coronary syndrome. JAMA 2005; 294:1526-1533.
16. Liggett SB, Wagoner LE, Craft LL, Hornung RW, Hoit BD, McIntosh TC, Walsh RA. The Ile164 beta2-adrenergic receptor polymorphism adversely affects the outcome of congestive heart failure. J Clin Invest 1998; 102:1534-1539.
17. Littlejohn MD, Palmer BR, Richards AM, Frampton CM, Pilbrow AP, Troughton RW, et al. Ile164 variant of beta2-adrenoceptor does not influence outcome in heart failure but may interact with beta blocker treatment. Eur J Heart Fail 2008; 10:55-59.
18. 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.
19. Lima JJ, Thomason DB, Mohamed MH, Eberle LV, Self TH, Johnson JA. Impact of genetic polymorphisms of the beta2-adrenergic receptor on albuterol bronchodilator pharmacodynamics. Clin Pharmacol Ther 1999; 65:519-525.
20. Choudhry S, Ung N, Avila PC, Ziv E, Nazario S, Casal J, et al. Pharmacogenetic differences in response to albuterol between Puerto Ricans and Mexicans with asthma. Am J Respir Crit Care Med 2005; 171:563-570.
21. Martin AC, Zhang G, Rueter K, Khoo SK, Bizzintino J, Hayden CM, et al. Beta2-adrenoceptor polymorphisms predict response to beta2-agonists in children with acute asthma. J Asthma 2008; 45:383-388.
22. Tsai HJ, Shaikh N, Kho JY, Battle N, Naqvi M, Navarro D, et al. Beta 2-adrenergic receptor polymorphisms: pharmacogenetic response to bronchodilator among African American asthmatics. Hum Genet 2006; 119:547-557.
23. Taylor DR, Epton MJ, Kennedy MA, Smith AD, Iles S, Miller AL, et al. Bronchodilator response in relation to beta2-adrenoceptor haplotype in patients with asthma. Am J Respir Crit Care Med 2005; 172:700-703.
24. Drysdale CM, McGraw DW, Stack CB, Stephens JC, 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.
25. Telleria JJ, Blanco-Quiros A, Muntion S, Antonio Garrote J, Arranz E, Armentia A, et al. Tachyphylaxis to beta2-agonists in Spanish asthmatic patients could be modulated by beta2-adrenoceptor gene polymorphisms. Respir Med 2006; 100:1072-1078.
26. Summerhill E, Leavitt SA, Gidley H, Parry R, Solway J, Ober C. Beta(2)-adrenergic receptor Arg16/Arg16 genotype is associated with reduced lung function, but not with asthma, in the Hutterites. Am J Respir Crit Care Med 2000; 162:599-602.
27. 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.
28. Dishy V, Sofowora GG, Xie HG, Kim RB, Byrne DW, Stein CM, Wood AJ. The effect of common polymorphisms of the beta2-adrenergic receptor on agonist-mediated vascular desensitization. N Engl J Med 2001; 345:1030-1035.
29. Bruck H, Leineweber K, Park J, Weber M, Heusch G, Philipp T, Brodde OE. Human beta2-adrenergic receptor gene haplotypes and venodilation in vivo. Clin Pharmacol Ther 2005; 78:232-238.
30. 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.
31. De Groote P, Helbecque N, Lamblin N, Hermant X, Mc Fadden E, Foucher-Hossein C, et al. Association between beta-1 and beta-2 adrenergic receptor gene polymorphisms and the response to beta-blockade in patients with stable congestive heart failure. Pharmacogenet Genomics 2005; 15:137-142.
32. Forleo C, Resta N, Sorrentino S, Guida P, Manghisi A, De Luca V, et al. Association of beta-adrenergic receptor polymorphisms and progression to heart failure in patients with idiopathic dilated cardiomyopathy. Am J Med 2004; 117:451-458.
33. Shin J, Lobmeyer MT, Gong Y, Zineh I, Langaee TY, Yarandi H, et al. Relation of beta(2)-adrenoceptor haplotype to risk of death and heart transplantation in patients with heart failure. Am J Cardiol 2007; 99:250-255.
34. Sehnert AJ, Daniels SE, Elashoff M, Wingrove JA, Burrow CR, Horne B, et al. Lack of association between adrenergic receptor genotypes and survival in heart failure patients treated with carvedilol or metoprolol. J Am Coll Cardiol 2008; 52:644-651.
35. Kim SH, Kim DJ, Seo IA, Min YK, Lee MS, Kim KW, Lee MK. Significance of beta2-adrenergic receptor gene polymorphism in obesity and type 2 diabetes mellitus in Korean subjects. Metabolism 2002; 51:833-837.
36. Gjesing AP, Andersen G, Burgdorf KS, Borch-Johnsen K, Jorgensen T, Hansen T, Pedersen O. Studies of the associations between functional beta2-adrenergic receptor variants and obesity, hypertension and type 2 diabetes in 7808 white subjects. Diabetologia 2007; 50:563-568. (Pubitemid 46215499)
37. Chang TJ, Tsai MH, Jiang YD, Lee B, Lee KC, Lin JY, et al. The Arg16Gly polymorphism of human beta2-adrenoreceptor is associated with type 2 diabetes in Taiwanese people. Clin Endocrinol (Oxf) 2002; 57: 685-690.
38. Ikarashi T, Hanyu O, Maruyama S, Souda S, Kobayashi C, Abe E, et al. Genotype Gly/Gly of the Arg16Gly polymorphism of the beta2-adrenergic receptor is associated with elevated fasting serum insulin concentrations, but not with acute insulin response to glucose, in type 2 diabetic patients. Diabetes Res Clin Pract 2004; 63:11-18.
39. Masuo K, Katsuya T, Fu Y, Rakugi H, Ogihara T, Tuck ML. Beta2-adrenoceptor polymorphisms relate to insulin resistance and sympathetic overactivity as early markers of metabolic disease in nonobese, normotensive individuals. Am J Hypertens 2005; 18:1009-1014.
40. Bengtsson K, Orho-Melander M, Melander O, Lindblad U, Ranstam J, Rastam L, Groop L. Beta(2)-adrenergic receptor gene variation and hypertension in subjects with type 2 diabetes. Hypertension 2001; 37:1303-1308.
41. Pereira AC, Floriano MS, Mota GF, Cunha RS, Herkenhoff FL, Mill JG, Krieger JE. Beta2 adrenoceptor functional gene variants, obesity, and blood pressure level interactions in the general population. Hypertension 2003; 42:685-692.
42. Hayakawa T, Nagai Y, Kahara T, Yamashita H, Takamura T, Abe T, et al. Gln27Glu and Arg16Gly polymorphisms of the beta2-adrenergic receptor gene are not associated with obesity in Japanese men. Metabolism 2000; 49:1215-1218.
43. Ishiyama-Shigemoto S, Yamada K, Yuan X, Ichikawa F, Nonaka K. Association of polymorphisms in the beta2-adrenergic receptor gene with obesity, hypertriglyceridaemia, and diabetes mellitus. Diabetologia 1999; 42:98-101.
44. Jalba MS, Rhoads GG, Demissie K. Association of codon 16 and codon 27 beta 2-adrenergic receptor gene polymorphisms with obesity: a meta-analysis. Obesity (Silver Spring) 2008; 16:2096-2106.
45. Wu HM, Bai H, Fan P, Liu R, Liu Y, Liu BW. Analysis of beta2-adrenergic receptor gene (beta2AR) Arg16Gly polymorphism in patients with endogenous hypertriglyceridemia in Chinese population. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008; 25:50-54. (Pubitemid 351796748)
46. Tseng ZH, Aouizerat BE, Pawlikowska L, Vittinghoff E, Lin F, Whiteman D, et al. Common beta-adrenergic receptor polymorphisms are not associated with risk of sudden cardiac death in patients with coronary artery disease. Heart Rhythm 2008; 5:814-821.
47. Lemaitre RN, Heckbert SR, Sotoodehnia N, Bis JC, Smith NL, Marciante KD, et al. beta1- and beta2-adrenergic receptor gene variation, beta-blocker use and risk of myocardial infarction and stroke. Am J Hypertens 2008; 21: 290-296.
48. Khalaila JM, Elami A, Caraco Y. Interaction between beta2 adrenergic receptor polymorphisms determines the extent of isoproterenol-induced vasodilatation ex vivo. Pharmacogenet Genomics 2007; 17:803-811.
49. Wallerstedt SM, Eriksson AL, Ohlsson C, Hedner T. Haplotype association analysis of the polymorphisms Arg16Gly and Gln27Glu of the adrenergic beta2 receptor in a Swedish hypertensive population. J Hum Hypertens 2005; 19:705-708.
50. Kaye DM, Smirk B, Williams C, Jennings G, Esler M, Holst D. Beta-adrenoceptor genotype influences the response to carvedilol in patients with congestive heart failure. Pharmacogenetics 2003; 13:379-382.
51. 0-leader cistron of the beta2-adrenergic receptor gene associated with obesity and type 2 diabetes. J Clin Endocrinol Metab 1999; 84:1754-1757.
52. Pinelli M, Giacchetti M, Acquaviva F, Cocozza S, Donnarumma G, Lapice E, et al. Beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus. BMC Med Genet 2006; 7:85.
53. Carlsson M, Orho-Melander M, Hedenbro J, Groop LC. Common variants in the beta2-(Gln27Glu) and beta3-(Trp64Arg)-adrenoceptor genes are associated with elevated serum NEFA concentrations and type II diabetes. Diabetologia 2001; 44:629-636.
54. Lima JJ, Feng H, Duckworth L, Wang J, Sylvester JE, Kissoon N, Garg H. Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations. Metabolism 2007; 56:757-765.
55. Rooyen JM, Pretorius PJ, Britz M, Huisman HW, Schutte AE, Towers GW, et al. Genetic polymorphisms of beta2 and beta3-adrenergic receptor genes associated with characteristics of the metabolic syndrome in black South African women. Exp Clin Endocrinol Diabetes 2008; 116:236-240.
56. Lange LA, Norris JM, Langefeld CD, Nicklas BJ, Wagenknecht LE, Saad MF, Bowden DW. Association of adipose tissue deposition and beta-2 adrenergic receptor variants: the IRAS family study. Int J Obes (Lond) 2005; 29:449-457.
57. Corbalan MS, Marti A, Forga L, Martinez-Gonzalez MA, Martinez JA. Beta(2)-adrenergic receptor mutation and abdominal obesity risk: effect modification by gender and HDL-cholesterol. Eur J Nutr 2002; 41:114-118.
58. Iaccarino G, Trimarco V, Lanni F, Cipolletta E, Izzo R, Arcucci O, et al. Beta-blockade and increased dyslipidemia in patients bearing Glu27 variant of beta2 adrenergic receptor gene. Pharmacogenomics J 2005; 5:292-297.
59. Isaza CA, Henao J, Sanchez JC, Porras GL, Cardona J, Bedoya G. Beta-2-adrenergic receptor polymorphisms and changes in lipids induced by metoprolol. Pharmacology 2007; 80:279-285.
60. Isaza C, Henao J, Ramirez E, Cuesta F, Cacabelos R. Polymorphic variants of the beta2-adrenergic receptor (ADRB2) gene and ADRB2-related propanolol-induced dyslipidemia in the Colombian population. Methods Find Exp Clin Pharmacol 2005; 27:237-244.
61. Iwamoto N, Ogawa Y, Kajihara S, Hisatomi A, Yasutake T, Yoshimura T, et al. Gln27Glu beta2-adrenergic receptor variant is associated with hypertriglyceridemia and the development of fatty liver. Clin Chim Acta 2001; 314:85-91.
62. Ehrenborg E, Skogsberg J, Ruotolo G, Large V, Eriksson P, Arner P, Hamsten A. The Q/E27 polymorphism in the beta2-adrenoceptor gene is associated with increased body weight and dyslipoproteinaemia involving triglyceride-rich lipoproteins. J Intern Med 2000; 247:651-656.
63. Green SA, Rathz DA, Schuster AJ, Liggett SB. The Ile164 beta(2)-adrenoceptor polymorphism alters salmeterol exosite binding and conventional agonist coupling to G(s). Eur J Pharmacol 2001; 421:141-147.
64. Brodde OE, Buscher R, Tellkamp R, Radke J, Dhein S, Insel PA. Blunted cardiac responses to receptor activation in subjects with Thr164Ile beta(2)-adrenoceptors. Circulation 2001; 103:1048-1050.
65. Sethi AA, Tybjaerg-Hansen A, Jensen GB, Nordestgaard BG. 164Ile allele in the beta2-adrenergic receptor gene is associated with risk of elevated blood pressure in women. The Copenhagen City Heart Study. Pharmacogenet Genomics 2005; 15:633-645.
66. Piscione F, Iaccarino G, Galasso G, Cipolletta E, Rao MA, Brevetti G, et al. Effects of Ile164 polymorphism of beta2-adrenergic receptor gene on coronary artery disease. J Am Coll Cardiol 2008; 52:1381-1388.
67. Contopoulos-Ioannidis DG, Alexiou GA, Gouvias TC, Ioannidis JP. An empirical evaluation of multifarious outcomes in pharmacogenetics: beta-2 adrenoceptor gene polymorphisms in asthma treatment. Pharmacogenet Genomics 2006; 16:705-711.
68. Cagliani R, Fumagalli M, Pozzoli U, Riva S, Comi GP, Torri F, et al. Diverse evolutionary histories for beta-adrenoreceptor genes in humans. Am J Hum Genet 2009; 85:64-75.
69. Ahles A, Engelhardt S. Polymorphisms determine beta-adrenoceptor conformation: implications for cardiovascular disease and therapy. Trends Pharmacol Sci 2009; 30:188-193.