Asthma pharmacogenetics: Responding to the call for a personalized approach

Current Opinion in Allergy and Clinical Immunology

Volumn 13, Issue 4, 2013, Pages 399-409

  Ortega, Victor E ^a   Wechsler, Michael E ^b  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

^b DEPARTMENT OF MEDICINE   (United States)

Author keywords

Asthma; Genes; Pharmacogenetics; Response heterogeneity; Single nucleotide polymorphism

Indexed keywords

ATRELEUTON; BETA 2 ADRENERGIC RECEPTOR; CYTOCHROME P450 3A4; CYTOCHROME P450 3A5; CYTOCHROME P450 3A7; FLUTICASONE; GLUCOCORTICOID; LEUKOTRIENE; MONTELUKAST; MULTIDRUG RESISTANCE PROTEIN 1; PEPTIDOLEUKOTRIENE; SALBUTAMOL; SALMETEROL; ZILEUTON;

AIRWAY OBSTRUCTION; ALLELE; ASTHMA; FORCED EXPIRATORY VOLUME; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; GENOTYPE ENVIRONMENT INTERACTION; HAPLOTYPE; HUMAN; LUNG FUNCTION; PEAK EXPIRATORY FLOW; PERSONALIZED MEDICINE; PHARMACOGENETICS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; REVIEW; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE; TANDEM REPEAT; TREATMENT RESPONSE;

ASTHMA; CLINICAL TRIALS AS TOPIC; HUMANS; INDIVIDUALIZED MEDICINE; LEUKOTRIENES; PHARMACOGENETICS; RECEPTORS, ADRENERGIC, BETA-2; RECEPTORS, GLUCOCORTICOID;

EID: 84880136402     PISSN: 15284050     EISSN: 14736322     Source Type: Journal    
DOI: 10.1097/ACI.0b013e3283630c19     Document Type: Review

References (71)

1. Masoli M, Fabian D, Holt S, Beasley R. The global burden of asthma: executive summary of the GINA Dissemination Committee report. Allergy 2004; 59: 469-478.
2. Moore WC,Meyers DA, Wenzel SE, et al. Identification of asthma phenotypes using cluster analysis in the Severe Asthma Research Program. Am J Respir Crit Care Med 2010; 181: 315-323.
3. Proceedings of the ATS workshop on refractory asthma: current understanding, recommendations, and unanswered, questions. American Thoracic Society Am J Respir Crit Care Med 2000; 162: 2341-2351.
4. Chan MT, Leung DY, Szefler SJ, Spahn JD. Difficult-to-control asthma: clinical characteristics of steroid-insensitive asthma. J Allergy Clin Immunol 1998; 101: 594-601.
5. Serra-Batlles J, Plaza V, Morejon E, et al. Costs of asthma according to the degree of severity. Eur Respir J 1998; 12: 1322-1326.
6. Castle W, Fuller R, Hall J, Palmer J. Serevent nationwide surveillance study: comparison of salmeterol with salbutamol in asthmatic patients who require regular bronchodilator treatment. BMJ 1993; 306:1034-1037.
7. Nelson HS, Weiss ST, Bleecker ER, et al. The Salmeterol Multicenter Asthma Research Trial: a comparison of usual pharmacotherapy for asthma or usual pharmacotherapy plus salmeterol. Chest 2006; 129: 15-26.
8. Drazen JM, Silverman EK, Lee TH. Heterogeneity of therapeutic responses in asthma. Br Med Bull 2000; 56: 1054-1070.
9. Kalow W, Tang BK, Endrenyi L. Hypothesis: comparisons of inter- and intraindividual variations can substitute for twin studies in drug research. Pharmacogenetics 1998; 8: 283-289.
10. Vesell ES. Pharmacogenetic perspectives gained from twin and family studies. Pharmacol Ther 1989; 41: 535-552.
11. Drazen JM, Yandava CN, Dube L, et al. Pharmacogenetic association between ALOX5 promoter genotype and the response to antiasthma treatment. Nat Genet 1999; 22: 168-170.
12. Telleria JJ, Blanco-Quiros A, Varillas D, et al. ALOX5 promoter genotype and response to montelukast in moderate persistent asthma. Respir Med 2008; 102: 857-861.
13. Tantisira KG, Lima J, Sylvia J, et al. 5-lipoxygenase pharmacogenetics in asthma: overlap with Cys-leukotriene receptor antagonist loci. Pharmacogenet Genomics 2009; 19: 244-247.
14. Lima JJ, Zhang S, Grant A, et al. Influence of leukotriene pathway polymorphisms on response to montelukast in asthma. Am J Respir Crit Care Med 2006; 173: 379-385.
15. KlotsmanM, York TP, Pillai SG, et al. Pharmacogenetics of the 5-lipoxygenase biosynthetic pathway and variable clinical response to montelukast. Pharmacogenet Genomics 2007; 17: 189-196.
16. Tantisira KG, Lake S, Silverman ES, et al. Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroids. Hum Mol Genet 2004; 13: 1353-1359.
17. Hawkins GA, Lazarus R, Smith RS, et al. The glucocorticoid receptor heterocomplex gene STIP1 is associated with improved lung function in asthmatic subjects treated with inhaled corticosteroids. J Allergy Clin Immunol 2009; 123:1376-1383; e7.
18. Tantisira KG, Hwang ES, Raby BA, et al. TBX21: a functional variant predicts improvement in asthma with the use of inhaled corticosteroids. Proc Natl Acad Sci U S A 2004; 101: 18099-18104.
19. Ye YM, Lee HY, Kim SH, et al. Pharmacogenetic study of the effects of NK2R G231EG>A and TBX21 H33Q C>Gpolymorphisms on asthma control with inhaled corticosteroid treatment. J Clin Pharm Ther 2009; 34: 693-701.
20. Tantisira KG, Small KM, Litonjua AA, et al. Molecular properties and pharmacogenetics of a polymorphismof adenylyl cyclase type 9 in asthma: interaction between beta-Agonist and corticosteroid pathways. Hum Mol Genet 2005; 14: 1671-1677.
21. Kim SH, Ye YM, Lee HY, et al. Combined pharmacogenetic effect of ADCY9 and ADRB2 gene polymorphisms on the bronchodilator response to inhaled combination therapy. J Clin Pharm Ther 2011; 36: 399-405.
22. Tantisira KG, Lasky-Su J, Harada M, et al. Genomewide association between GLCCI1 and response to glucocorticoid therapy in asthma. N Engl J Med 2011; 365: 1173-1183.
23. Tantisira KG, Damask A, Szefler SJ, et al. Genome-wide association identifies the T gene as a novel asthma pharmacogenetic locus. Am J Respir Crit Care Med 2012; 185: 1286-1291.
24. Stockmann C, Fassl B, Gaedigk R, et al. Fluticasone propionate pharmacogenetics: CYP3A4-22 polymorphism and pediatric asthma control. J Pediatr 2013; 162:1222-1227; e2.
25. Cho SH, Oh SY, Bahn JW, et al. Association between bronchodilating response to short-Acting beta-Agonist and nonsynonymous single-nucleotide polymorphisms of beta-Adrenoceptor gene. Clin Exp Allergy 2005; 35:1162-1167.
26. Choudhry S, Ung N, Avila PC, 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.
27. Lima JJ, Thomason DB, Mohamed MH, et al. Impact of genetic polymorphisms of the beta2-Adrenergic receptor on albuterol bronchodilator pharmacodynamics. Clin Pharmacol Ther 1999; 65: 519-525.
28. Israel E, Drazen JM, Liggett SB, et al. 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 2000; 162: 75-80.
29. Taylor DR, Drazen JM, Herbison GP, et al. Asthma exacerbations during long term beta agonist use: influence of beta(2) adrenoceptor polymorphism. Thorax 2000; 55: 762-767.
30. Israel E, Chinchilli VM, Ford JG, et al. Use of regularly scheduled albuterol treatment in asthma: genotype-stratified, randomised, placebo-controlled cross-over trial. Lancet 2004; 364: 1505-1512.
31. Wechsler ME, Lehman E, Lazarus SC, et al. beta-Adrenergic receptor polymorphisms and response to salmeterol. Am J Respir Crit Care Med 2006; 173: 519-526.
32. Bleecker ER, Postma DS, Lawrance RM, et al. Effect of ADRB2 polymorphisms on response to longacting beta2-Agonist therapy: a pharmacogenetic analysis of two randomised studies. Lancet 2007; 370: 2118-2125.
33. Bleecker ER, Yancey SW, Baitinger LA, et al. Salmeterol response is not affected by beta2-Adrenergic receptor genotype in subjects with persistent asthma. J Allergy Clin Immunol 2006; 118: 809-816.
34. Bleecker ER, Nelson HS, Kraft M, et al. Beta2-receptor polymorphisms in patients receiving salmeterol with or without fluticasone propionate. Am J Respir Crit Care Med 2010; 181: 676-687.
35. Wechsler ME, Kunselman SJ, Chinchilli VM, et al. Effect of beta2-Adrenergic receptor polymorphism on response to longacting beta2 agonist in asthma (LARGE trial): a genotype-stratified, randomised, placebo-controlled, crossover trial. Lancet 2009; 374: 1754-1764.
36. Lee DK, Currie GP, Hall IP, et al. The arginine-16 beta2-Adrenoceptor polymorphism predisposes to bronchoprotective subsensitivity in patients treated with formoterol and salmeterol. Br J Clin Pharmacol 2004; 57: 68-75.
37. Lipworth BJ, Basu K, Donald HP, et al. Tailored second-line therapy in asthmatic children with the Arg16 genotype. Clin Sci (Lond) 2013; 124: 521-528.
38. Gallagher J. Spit test 'improves' asthma care. BBC News; 2013. [Accessed 16 May 2013 at http://www.bbc.co.uk/news/health-20931946].
39. Green SA, Cole G, Jacinto M, et al. 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.
40. Duan QL, Gaume BR, Hawkins GA, et al. Regulatory haplotypes in ARG1 are associated with altered bronchodilator response. Am J Respir Crit Care Med 2011; 183: 449-454.
41. Zimmermann N, King NE, Laporte J, et al. Dissection of experimental asthma with DNA microarray analysis identifies arginase in asthma pathogenesis. J Clin Invest 2003; 111: 1863-1874.
42. Iordanidou M, Paraskakis E, Tavridou A, et al. G894T polymorphism of eNOS gene is a predictor of response to combination of inhaled corticosteroids with long-lasting beta2-Agonists in asthmatic children. Pharmacogenomics 2012; 13: 1363-1372.
43. Poon AH, Tantisira KG, Litonjua AA, et al. Association of corticotropinreleasing hormone receptor-2 genetic variants with acute bronchodilator response in asthma. Pharmacogenet Genomics 2008; 18: 373-382.
44. Litonjua AA, Silverman EK, Tantisira KG, et al. Beta 2-Adrenergic receptor polymorphisms and haplotypes are associated with airways hyperresponsiveness among nonsmoking men. Chest 2004; 126: 66-74.
45. Chalmers GW, Macleod KJ, Little SA, et al. Influence of cigarette smoking on inhaled corticosteroid treatment in mild asthma. Thorax 2002; 57: 226-230.
46. Malmstrom K, Rodriguez-Gomez G, Guerra J, et al. Oral montelukast, inhaled beclomethasone, and placebo for chronic asthma. A randomized, controlled trial. Montelukast/Beclomethasone Study Group. Ann Intern Med 1999; 130: 487-495.
47. Peters SP, Anthonisen N, Castro M, et al. Randomized comparison of strategies for reducing treatment in mild persistent asthma. N Engl J Med 2007; 356: 2027-2039.
48. Sorkness CA, Lemanske RF Jr, Mauger DT, et al. Long-term comparison of 3 controller regimens for mild-moderate persistent childhood asthma: the Pediatric Asthma Controller Trial. J Allergy Clin Immunol 2007; 119: 64-72.
49. Szefler SJ, Phillips BR, Martinez FD, et al. Characterization of within-subject responses to fluticasone and montelukast in childhood asthma. J Allergy Clin Immunol 2005; 115: 233-242.
50. Pratt WB, Galigniana MD, Harrell JM, DeFranco DB. Role of hsp90 and the hsp90-binding immunophilins in signalling protein movement. Cell Signal 2004; 16: 857-872.
51. Profita M, Gagliardo R, Di Giorgi R, et al. Biochemical interaction between effects of beclomethasone dipropionate and salbutamol or formoterol in sputum cells from mild to moderate asthmatics. Allergy 2005; 60:323-329.
52. Usmani OS, Ito K, Maneechotesuwan K, et al. Glucocorticoid receptor nuclear translocation in airway cells after inhaled combination therapy. Am J Respir Crit Care Med 2005; 172: 704-712.
53. Berce V, Kozmus CE, Potocnik U. Association among ORMDL3 gene expression, 17q21 polymorphism and response to treatment with inhaled corticosteroids in children with asthma. Pharmacogenomics J 2012; S0022- 3476(12)01365-0. 10.1016/j.jpeds.2012.11.031. [Epub ahead of print].
54. Salpeter SR, Buckley NS, Ormiston TM, Salpeter EE. Meta-Analysis: effect of long-Acting beta-Agonists on severe asthma exacerbations and asthmarelated deaths. Ann Intern Med 2006; 144: 904-912.
55. Lemanske RF Jr, Sorkness CA, Mauger EA, et al. Inhaled corticosteroid reduction and elimination in patients with persistent asthma receiving salmeterol: a randomized controlled trial. JAMA 2001; 285: 2594-2603.
56. O'Byrne PM, Barnes PJ, Rodriguez-Roisin R, et al. Low dose inhaled budesonide and formoterol in mild persistent asthma: the OPTIMA randomized trial. Am J Respir Crit Care Med 2001; 164: 1392-1397.
57. Peters SP, Prenner BM, Mezzanotte WS, et al. Long-term safety and asthma control with budesonide/formoterol versus budesonide pressurized metereddose inhaler in asthma patients. Allergy Asthma Proc 2008; 29: 499-516.
58. Sears MR, Ottosson A, Radner F, Suissa S. Long-Acting beta-Agonists: a review of formoterol safety data from asthma clinical trials. Eur Respir J 2009; 33: 21-32.
59. FDA Drug Safety Communication: FDA requires postmarket safety trials for Long-Acting Beta-Agonists (LABAs). 2011. http://www.fda.gov/Drugs/Drug- Safety/ucm251512.htm. [Accessed 10 July 2012]
60. Chowdhury BA, Seymour SM, Levenson MS. Assessing the safety of adding LABAs to inhaled corticosteroids for treating asthma. N Engl J Med 2011; 364: 2473-2475.
61. Ortega VE, Hawkins GA, Peters SP, Bleecker ER. Pharmacogenetics of the beta 2-Adrenergic receptor gene. Immunol Allergy Clin North Am 2007; 27:665-684; vii.
62. Hawkins GA, Tantisira K, Meyers DA, 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.
63. Green SA, Turki J, Bejarano P, et al. 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.
64. 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.
65. 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.
66. Thomsen M, Nordestgaard BG, Sethi AA, et al. beta2-Adrenergic receptor polymorphisms, asthma and COPD: two large population-based studies. Eur Respir J 2012; 39: 558-566.
67. Ambrose HJ, Lawrance RM, Cresswell CJ, et al. Effect of beta2-Adrenergic receptor gene (ADRB2) 3' untranslated region polymorphisms on inhaled corticosteroid/long-Acting beta2-Adrenergic agonist response. Respir Res 2012; 13:37.
68. Litonjua AA, Lasky-Su J, Schneiter K, et al. ARG1 is a novel bronchodilator response gene: screening and replication in four asthma cohorts. Am J Respir Crit Care Med 2008; 178: 688-694.
69. Vonk JM, Postma DS, Maarsingh H, et al. Arginase 1 and arginase 2 variations associate with asthma, asthma severity and beta2 agonist and steroid response. Pharmacogenet Genomics 2010; 20: 179-186.
70. Himes BE, Jiang X, Hu R, et al. Genome-wide association analysis in asthma subjects identifies SPATS2L as a novel bronchodilator response gene. PLoS Genet 2012; 8:e1002824.
71. Slager RE, Otulana BA, Hawkins GA, et al. IL-4 receptor polymorphisms predict reduction in asthma exacerbations during response to an anti-IL-4 receptor alpha antagonist. J Allergy Clin Immunol 2012; 130:516-522; e4.