Polymorphisms in ADRB2 gene can modulate the response to bronchodilators and the severity of cystic fibrosis

BMC Pulmonary Medicine

Volumn 12, Issue , 2012, Pages

  Marson, Fernando A L ^a   Bertuzzo, Carmen S ^a   Ribeiro, Antônio F ^a   Ribeiro, José D ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

ADRB2 gene; Beta 2 adrenergic receptor; Cystic fibrosis; Genotype; Phenotype; Pulmonary function

Indexed keywords

ARGININE; BETA 2 ADRENERGIC RECEPTOR; BRONCHODILATING AGENT; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GLYCINE; SALBUTAMOL;

ARTICLE; BLOOD SAMPLING; CHILD; CROSS-SECTIONAL STUDY; CYSTIC FIBROSIS; DISEASE SEVERITY; DRUG EFFICACY; DRUG RESPONSE; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; GENE DELETION; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MECONIUM ILEUS; PANCREAS INSUFFICIENCY; PHARMACOGENETICS; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPIROMETRY;

ADOLESCENT; ADULT; AGED; BRONCHODILATOR AGENTS; CHILD; CROSS-SECTIONAL STUDIES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, GENETIC; RECEPTORS, ADRENERGIC, BETA-2; SEVERITY OF ILLNESS INDEX; SPIROMETRY; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84865657641     PISSN: None     EISSN: 14712466     Source Type: Journal    
DOI: 10.1186/1471-2466-12-50     Document Type: Article

References (31)

1. Vankeerberghen A, Cuppens H, Cassiman JJ. The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions. J Cyst Fibros 2002, 1:13-29. 10.1016/S1569-1993(01)00003-0, 15463806.
2. Cutting GR. Modifier genes in Mendelian disorders: the example of cystic fibrosis. Ann N Y Acad Sci 2010, 1214:57-69. 10.1111/j.1749-6632.2010.05879.x, 3040597, 21175684.
3. Simmonds NJ, MacNeil SJ, Cullinan P, Hodson ME. Cystic fibrosis and survival to 40 years: a case-control study. Eur Respir J 2010, 36(6):1277-1283. 10.1183/09031936.00001710, 20378603.
4. Stanke F, Becker T, Kumar V, Hedtfeld S, Becker C, Cuppens H, Tamm S, Yarden J, Laabs U, Siebert B, Fernandez L, Macek M, Radojkovic D, Ballmann M, Greipel J, Cassiman JJ, Wienker TF, Tümmler B. Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia. J Med Genet 2010, 48(1):24-31. 3003880, 20837493.
5. Collaco JM, Blackman SM, McGready J, Naughton KM, Cutting GR. Quantification of the Relative Contribution of Environmental and Genetic Factors to Variation in Cystic Fibrosis Lung Function. J Pediatr 2010, 157(5):802-807. 10.1016/j.jpeds.2010.05.018, 2948620, 20580019.
6. Matel JL, Milla CE. Nutrition in Cystic Fibrosis. Semin Respir Crit Care Med 2009, 30(5):579-586. 10.1055/s-0029-1238916, 19760545.
7. Casier A, Goubert L, Theunis M, Huse D, De Baets F, Matthys D, Crombez G. Acceptance and Well-Being in Adolescents and Young Adults with Cystic Fibrosis: A Prospective Study. J Pediatr Psychol 2011, 36(4):476-487. 10.1093/jpepsy/jsq111, 21208979.
8. Regamey N, Jeffery PK, Alton EWFW, Bush A, Davies JC. Airway remodelling and its relationship to inflammation in cystic fibrosis. Thorax 2011, 66(7):624-629. 10.1136/thx.2009.134106, 20889525.
9. Heijerman H, Westerman E, Conway S, Touw D. Inhaled medication and inhalation devices for lung disease in patients with cystic fibrosis: A European consensus. J Cyst Fibros 2009, 8(5):295-315. 10.1016/j.jcf.2009.04.005, 19559658.
10. Patel M, Thomson NC. (R)-salbutamol in the treatment of asthma and chronic obstructive airways disease. Expert Opin Pharmacother 2011, 12(7):1133-1141. 10.1517/14656566.2011.571210, 21453221.
11. Barnes PJ. Beta-adrenergic Receptors and Their Regulation. Am J Respir Crit Care 1995, 152(3):838-860.
12. Hall IP, Blakey JD, Al Balushi KA, Wheatley A, Sayers I, Pembrey ME, Ring SM, McArdle WL, Strachan DP. β2-adrenoceptor polymorphisms and asthma from childhood to middle age in the British 1958 birth cohort: a genetic association study. Lancet 2006, 368(9537):771-779. 10.1016/S0140-6736(06)69287-8, 16935688.
13. Thakkinstian A, McEvoy M, Minelli C, Gibson P, Hancox B, Duffy D, Thompson J, Hall I, Kaufman J, Leung TF, Helms PJ, Hakonarson H, Halpi E, Navon R, Attia J. Systematic Review and Meta-Analysis of the Association between β2-Adrenoceptor Polymorphisms and Asthma: A HuGE Review. J Epidemiol 2005, 162(3):201-211.
14. Rasmussen SGF, Choi H, Rosenbaum DM, Kobilka TS, Thian FS, Edwards PC, Burghammer M, Ratnala VRP, Sanishvili R, Fischetti RF, Schertler GFX, Weis WI, Kobilka BK. Crystal structure of the human β2 adrenergic G-protein-coupled receptor. Nature 2007, 450:383-387. 10.1038/nature06325, 17952055.
15. Dror RO, Arlow DH, Maragakis P, Mildorf TJ, Pan AC, Xu H, Borhani DW, Shaw DE. Activation mechanism of the β2-adrenergic receptor. PNAS 2011, 108(46):18684-18689. 10.1073/pnas.1110499108, 3219117, 22031696.
16. Drysdale CM, McGraw DW, Stack CB, Stephens JC, Judson RS, Nandabalan K, Arnold K, Ruano G, Liggett SB. Complex promoter and coding region beta-2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc Nat Acad Sci 2000, 97:10483-10488. 10.1073/pnas.97.19.10483, 27050, 10984540.
17. Buscher R, Eilmes KJ, Graseman H, Torres B, Knauer N, Sroka K, Insel PA, Ratjen F. 2-adrenoreceptor gene polymorphisms in cystic fibrosis lung disease. Pharmacogenetics 2002, 12(5):347-353. 10.1097/00008571-200207000-00002, 12142724.
18. Hart MA, Konstan MW, Darrah RJ, Schluchter MD, Storfer-Isser A, Xue L, Londono D, Goddard KA, Drumm ML. Beta 2 adrenergic receptor polymorphisms in cystic fibrosis. Pediatr Pulmonol 2005, 39(6):544-550. 10.1002/ppul.20210, 15806595.
19. Steagall WK, Barrow BJ, Glasgow CG, Mendoza JW, Ehrmantraut M, Lin J, Insel PA, Moss J. Beta-2-adrenergic receptor polymorphisms in cystic fibrosis. Pharmacogenet Genomics 2007, 17(6):425-430. 10.1097/FPC.0b013e3280119349, 3021988, 17502834.
20. Collawn JF, Bebok Z, Matalon S. Search and rescue: finding ways to correct deltaF508 CFTR. Am J Respir Cell Mol Biol 2009, 40(4):385-387.
21. Taouil K, Hinnrasky J, Hologne C, Corlieu P, Klossek J, Edith Puchelle E. Stimulation of β2 adrenergic receptor increases CFTR expression in human airway epithelial cells through a c-AMP/protein kinase A-independent pathway. J Biol Chem 2003, 278(19):17320-17327. 10.1074/jbc.M212227200, 12621035.
22. Delavoie F, Molinari M, Milliot M, Zahm JM, Coraux C, Michel J, Balossier G. Salmeterol restores secretory functions in cystic fibrosis airway submucosal gland serous cells. Am J Respir Cell Mol Biol 2009, 40(4):388-397.
23. American Thoracic Society (ATS) 2011, http://www.thoracic.org/. Access in: 04.04.2012, American Thoracic Society (ATS).
24. Santos CIS, Ribeiro JD, Ribeiro AF, Hessel G. Critical analysis of scoring systems used in the assessment of Cystic Fibrosis severity: state of the art. J Bras Pneumol 2004, 30(3):286-298.
25. WHOAntroPLUS [computer program] WORLD HEALTH ORGANIZATION 2007, Geneva WHO, Version 102, WHOAntroPLUS [computer program].
26. Littlejohn MD, Taylor DR, Miller AL, Kennedy MA. Determination of beta-2-adrenergic receptor (ADRB2) haplotypes by a multiplexed polymerase chain reaction assay. Hum Mutat 2002, 20(6):479-487.
27. SPSS 17.0 for Windows (computer program) Statistical Package for Social Science (SPSS). Release Version 17.0.1. Chicago (IL): SPSS. Incorporation 2011, Available from: http://www.spss.com., SPSS 17.0 for Windows (computer program).
28. Dean AG, Dean JA, Coulombier D, Brendel KA, Smith DC, Burton AH, Dicker RC, Sullivan K, Fagan RF, Arner TG. EPI Info, Version 6.0: a word processing database and statistics program for epidemiology on microcomputer. [computer program] 1994, Atlanta, Georgia: Center of Disease Control and Prevention.
29. Faul F, Erdfelder E, Lang AG, Buchner A. G*Power 3: A flexible sta-tistical power analysis program for the social, behavioral, and biomedical sciences. Behavior Res Methods 2007, 39:175-191.
30. Drǎghici S. Data analysis tools for DNA microarrays 2003, New York: Chapman & Hall/CRC.
31. Sagel SD, Gibson RL, Emerson J, McNamara S, Burns JL, Wagener JS, Ramsey BW. Impact of Pseudomonas and Staphylococcus infection on inflammation and clinical status in young children with cystic fibrosis. J Pediatr 2009, 154(2):183-188. 10.1016/j.jpeds.2008.08.001, 2654617, 18822427.