β2-adrenergic receptor polymorphisms are associated with asthma and COPD in adults

Journal of Human Genetics

Volumn 51, Issue 11, 2006, Pages 943-951

  Matheson, Melanie C ^a,b   Ellis, Justine A ^b   Raven, Joan ^c   Johns, David P ^d   Walters, E Haydn ^d   Abramson, Michael J ^a  

^a MONASH UNIVERSITY   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c ALFRED HOSPITAL   (Australia)

^d UNIVERSITY OF TASMANIA   (Australia)

Author keywords

2AR (adrenoreceptor); Asthma; COPD; Haplotypes

Indexed keywords

AMINO ACID; ARGININE; BETA 2 ADRENERGIC RECEPTOR; GLUTAMINE; MEMBRANE RECEPTOR; METHACHOLINE;

ADULT; AGED; AIRWAY; ALGORITHM; AMINO ACID SEQUENCE; AMPLIFICATION REFRACTORY MUTATION SYSTEM POLYMERASE CHAIN REACTION; ARTICLE; ASTHMA; BRONCHUS HYPERREACTIVITY; CAUCASIAN; CHRONIC OBSTRUCTIVE LUNG DISEASE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GAS DIFFUSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HOMOZYGOTE; HUMAN; HUMAN EXPERIMENT; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; QUESTIONNAIRE; RECEPTOR INTRINSIC ACTIVITY; RESPIRATORY TRACT DISEASE; RISK ASSESSMENT; RISK FACTOR; SMOOTH MUSCLE FIBER; SPIROMETRY; WHEEZING; GENETICS; LUNG; MIDDLE AGED; MUTATION; PATHOLOGY; PHYSIOLOGY; STATISTICAL MODEL;

TETRA;

ADULT; AGED; ASTHMA; FEMALE; HOMOZYGOTE; HUMANS; LUNG; MALE; MIDDLE AGED; MODELS, STATISTICAL; MUTATION; POLYMORPHISM, GENETIC; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; RECEPTORS, ADRENERGIC, BETA-2; RISK FACTORS;

EID: 33751270109     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0043-z     Document Type: Article

References (42)

1. D'Amato M, Vitiani LR, Petrelli G, Ferrigno L, di Pietro A, Trezza R, Matricardi PM (1998) Association of persistent bronchial hyperresponsiveness with beta2-adrenoceptor (ADRB2) haplotypes. A population study. Am J Respir Crit Care Med 158:1968-1973
2. Dewar JC, Wheatley AP, Venn A, Morrison JF, Britton J, Hall IP (1998) Beta2-adrenoceptor polymorphisms are in linkage disequilibrium, but are not associated with asthma in an adult population. Clin Exp Allergy 28:442-448
3. Dishy V, Sofowora GG, Xie H, Kim RB, Byrne DW, Stein CM, Wood AJJ (2001) The effect of common polymorphisms of the (beta)(2))-adrenergic receptor on agonist-mediated vascular desensitization. N Engl J Med 345:1030-1035
4. Drysdale CM, McGraw DW, Stack CB, Stephens JC, Judson RS, Nandabalan K, Arnold K, Ruano G, Liggett SB (2000) Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc Natl Acad Sci USA 97:10483-10488
5. Gore CJ, Crockett AJ, Pederson DG, Booth ML, Bauman A, Owen N (1995) Spirometric standards for healthy adult lifetime nonsmokers in Australia. Eur Respir J 8:773-782
6. Green SA, Turki J, Innis M, Liggett SB (1994) Amino-terminal polymorphisms of the human beta-2-adrenergic receptor impart distinct agonist-promoted regulatory properties. Biochemistry 33:9414-9419
7. Green SA, Turki J, Bejarano P, Hall IP, Liggett SB (1995) Influence of beta-2-adrenergic receptor genotypes on signal trabsduction in human airway smooth muscle cells. Am J Respir Cell Mol Biol 13:25-33
8. Hall IP, Wheatley A, Wilding P, Liggett SB (1995) Association of Glu 27 beta 2-adrenoceptor polymorphism with lower airway reactivity in asthmatic subjects. Lancet 345:1213-1214
9. Hancox RJ, Sears MR, Taylor DR (1998) Polymorphism of the beta2-adrenoceptor and the response to long-term beta2-agonist therapy in asthma. Eur Respir J 11:589-593
10. Hawley ME, Kidd KK (1995) HAPLO: a program using the EM algorithm to estimate the frequencies of multi-site haplotypes. J Hered 86:409-411
11. Hegab AE, Sakamoto T, Saitoh W, Massoud HH, Massoud HM, Hassanein KM, Sekizawa K (2004) Polymorphisms of IL4, IL13, and ADRB2 genes in COPD. Chest 126:1832-1839
12. Ho LI, Harn HJ, Chen CJ, Tsai NM (2001) Polymorphism of the beta(2)-adrenoceptor in COPD in Chinese subjects. Chest 120:1493-1499
13. Hogg JC (2004) Pathophysiology of airflow limitation in chronic obstructive pulmonary disease. Lancet 364:709-721
14. Hopes E, McDougall C, Christie G, Dewar J, Wheatley A, Hall IP, Helms PJ (1998) Association of glutamine 27 polymorphism of beta 2 adrenoceptor with reported childhood asthma: population based study. BMJ 316:664
15. Hospers JJ, Postma DS, Rijcken B, Weiss ST, Schouten JP (2000) Histamine airway hyper-responsiveness and mortality from chronic obstructive pulmonary disease: a cohort study. Lancet 356:1313-1317
16. Israel E, Drazen JM, Liggett SB, Boushey HA, Cherniack RM, Chinchilli VM, Cooper DM, Fahy JV, Fish JE, Ford JG, Kraft M, Kunselman S, Lazarus SC, Lemanske RF, Martin RJ, McLean DE, Peters SP, Silverman EK, Sorkness CA, Szefler SJ, Weiss ST, Yandava CN (2000) The effect of polymorphisms of the beta(2)-adrenergic receptor on the response to regular use of albuterol in asthma. Am J Respir Crit Care Med 162:75-80
17. Israel E, Chinchilli VM, Ford JG, Boushey HA, Cherniack R, Craig TJ, Deykin A, Fagan JK, Fahy JV, Fish J, Kraft M, Kunselman SJ, Lazarus SC, Lemanske RFJ, Liggett SB, Martin RJ, Mitra N, Peters SP, Silverman EK, Sorkness CA, Szefler SJ, Wechsler ME, Weiss ST, Drazen JM, National Heart L, Blood Institute's Asthma Clinical Research Network (2004) Use of regularly scheduled albuterol treatment in asthma: genotype-stratified, randomised, placebo-controlled cross-over trial. Lancet 364:1505-1512
18. Joos L, Weir TD, Connett JE, Anthonisen NR, Woods R, Pare PD, Sandford AJ (2003) Polymorphisms in the beta2 adrenergic receptor and bronchodilator response, bronchial hyperresponsiveness, and rate of decline in lung function in smokers. Thorax 58:703-707
19. Lee DK, Currie GP, Hall IP, Lima JJ, Lipworth BJ (2004) The arginine-16 beta2-adrenoceptor polymorphism predisposes to bronchoprotective subsensitivity in patients treated with formoterol and salmeterol. Br J Clin Pharmacol 57:68-75
20. Liggett SB (1997) Polymorphisms of the beta2-adrenergic receptor and asthma. Am J Respir Crit Care Med 156:S156-S162
21. Lima JJ, Thomason DB, Mohamed MH, Eberle LV, Self TH, Johnson JA (1999) Impact of genetic polymorphisms of the beta2-adrenergic receptor on albuterol bronchodilator pharmacodynamics. Clin Pharmacol Ther 65:519-525
22. Lipworth BJ, Hall IP, Aziz I, Tan KS, Wheatley A (1999) Beta2-adrenoceptor polymorphism and bronchoprotective sensitivity with regular short- and long-acting beta2-agonist therapy. Clin Sci (Lond) 96:253-259
23. Litonjua AA, Silverman EK, Tantisira KG, Sparrow D, Sylvia JS, Weiss ST (2004) Beta 2-adrenergic receptor polymorphisms and haplotypes are associated with airways hyperresponsiveness among nonsmoking men. Chest 126:66-74
24. Martinez FD, Graves PE, Baldini M, Solomon S, Erickson R (1997) Association between genetic polymorphisms of the beta2-adrenoceptor and response to albuterol in children with and without a history of wheezing. J Clin Invest 100:3184-3188
25. Matheson MC, Benke G, Raven J, Sim MR, Kromhout H, Vermeulen R, Johns DP, Walters EH, Abramson MJ (2005) Biological dust exposure in the workplace is a risk factor for chronic obstructive pulmonary disease. Thorax 60:645-651
26. Pauwels RA, Buist AS, Calverley PM, Jenkins CR, Hurd SS, Committee GS (2001) Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease. NHLBI/WHO global initiative for chronic obstructive lung disease (GOLD) workshop summary. Am J Respir Crit Care Med 163:1256-1276
27. Pellegrino R, Viegi G, Brusasco V, Crapo RO, Burgos F, Casaburi R, Coates A, van der Grinten CP, Gustafsson P, Hankinson J, Jensen R, Johnson DC, MacIntyre N, McKay R, Miller MR, Navajas D, Pedersen OF, Wanger J (2005) Interpretative strategies for lung function tests. Eur Respir J 26(5):948-968
28. Quanjer PH, Dalhuijsen A, van Zomeren BC (1983) Summary equations of reference values. Bull Eur Physiopathol Respir 19:45-51
29. Ramsay CE, Hayden CM, Tiller KJ, Burton PR, Goldblatt J, Lesouef PN (1999) Polymorphisms in the beta2-adrenoreceptor gene are associated with decreased airway responsiveness. Clin Exp Allergy 29:1195-1203
30. Reihsaus E, Innis M, MacIntyre N, Liggett SB (1993) Mutations in the gene encoding for the beta-2-adrenergic receptor in normal and asthmatic subjects. Am J Respir Cell Mol Biol 8:334-339
31. Snyder EM, Beck KC, Dietz NM, Joyner MJ, Turner ST, Johnson BD (2006) Influence of beta2-adrenergic receptor genotype on airway function during exercise in healthy adults. Chest 129:762-770
32. Summerhill E, Leavitt SA, Gidley H, Parry R, Solway J, Ober C (2000) 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 162:599-602
33. Tan S, Hall IP, Dewar J, Dow E, Lipworth B (1997) Association between beta 2-adrenoceptor polymorphism and susceptibility to bronchodilator desensitisation in moderately severe stable asthmatics. Lancet 350:995-999
34. Tishkoff SA, Pakstis AJ, Ruano G, Kidd KK (2000) The accuracy of statistical methods for estimation of haplotype frequencies: an example from the CD4 locus. Am J Hum Genet 67:518-522
35. Toelle BG, Peat JK, Salome CM, Mellis GM, Woolcock AJ (1992) Towards a definition of asthma for epidemiology. Am Rev Respir Dis 146:633-637
36. Turki J, Pak J, Green SA, Martin RJ, Liggett SB (1995) Genetic polymorphisms of the beta-2-adrenergic receptor in nocturnal and nonnocturnal asthma. J Clin Invest 95:1635-1641
37. Turner SW, Khoo SK, Laing IA, Palmer LJ, Gibson NA, Rye P, Landau LI, Goldblatt J, Le Souef PN (2004) Beta adrenoceptor Arg16Gly polymorphism, airway responsiveness, lung function and asthma in infants and children. Clin Exp Allergy 34:1043-1048
38. Ulbrecht M, Hergeth MT, Wjst M, Heinrich J, Bickeboller H, Wichmann HE, Weiss EH (2000) Association of beta(2)-adrenoreceptor variants with bronchial hyperresponsiveness. Am J Respir Crit Care Med 161:469-474
39. Wang Z, Chen C, Niu T, Wu D, Yang J, Wang B, Fang Z, Yandava CN, Drazen JM, Weiss ST, Xu X (2001) Association of asthma with beta(2)-adrenergic receptor gene polymorphism and cigarette smoking. Am J Respir Crit Care Med 163:1404-1409
40. Weir TD, Mallek N, Sandford AJ, Bai TR, Awadh N, Fitzgerald JM, Cockcroft D, James A, Liggett SB, Pare PD (1998) Beta-2-adrenergic receptor haplotypes in mild, moderate and fatal/near fatal asthma. Am J Respir Crit Care Med 158:787-791
41. Xu X, Rijcken B, Schouten JP, Weiss ST (1997) Airways responsiveness and development and remission of chronic respiratory symptoms in adults. Lancet 350:1431-1434
42. Ye S, Dhillon S, Ke X, Collins AR, Day IN (2001) An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res 29:E88-E88