Pharmacogenetics of chronic obstructive pulmonary disease: Challenges and opportunities

Pharmacogenomics

Volumn 11, Issue 2, 2010, Pages 237-247

  Hersh, Craig P ^a,b  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Bronchodilator response; Chronic obstructive pulmonary disease; Emphysema; Exacerbation; Pharmacogenetics; Smoking cessation; SNP

Indexed keywords

BETA 2 ADRENERGIC RECEPTOR; CCL1 CHEMOKINE; CORTICOTROPIN RELEASING FACTOR RECEPTOR 1; EPOXIDE HYDROLASE; EXTRACELLULAR SUPEROXIDE DISMUTASE; HEMATOPOIETIC CELL KINASE; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN 4; MEMBRANE PROTEIN; SERPIN PEPTIDASE INHIBITOR E2; SURFACTANT PROTEIN B; UNCLASSIFIED DRUG;

CHRONIC BRONCHITIS; CHRONIC OBSTRUCTIVE LUNG DISEASE; DISEASE EXACERBATION; DISEASE PREDISPOSITION; EMPHYSEMA; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; LUNG FUNCTION; PHARMACOGENETICS; PHENOTYPE; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SMALL AIRWAY DISEASE; SMOKING CESSATION;

BRONCHODILATOR AGENTS; GENETIC HETEROGENEITY; HUMANS; PHARMACOGENETICS; PHENOTYPE; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; SMOKING; SMOKING CESSATION;

EID: 77949604672     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.09.176     Document Type: Review

References (99)

1. Pauwels RA, Buist AS, Calverley PM, Jenkins CR, Hurd SS: 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(5), 1256-1276 (2001).
2. Mannino DM, Homa DM, Akinbami LJ, Ford ES, Redd SC: Chronic obstructive pulmonary disease surveillance-United States, 1971-2000. MMWR Surveill. Summ. 51(6), 1-16 (2002).
3. Morbidity and Mortality: 2007 Chart Book on Cardiovascular, Lung, and Blood Diseases. NIH: National Heart, Lung, and Blood Institute, MD, USA (2007).
4. Rabe KF, Hurd S, Anzueto A et al.: Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease: GOLD executive summary. Am. J. Respir. Crit. Care Med. 176(6), 532-555 (2007).
5. Anthonisen NR, Connett JE, Kiley JP et al.: Effects of smoking intervention and the use of an inhaled anticholinergic bronchodilator on the rate of decline of FEV1. The Lung Health Study. JAMA 272(19), 1497-1505 (1994)
6. Nocturnal Oxygen Therapy Trial Group: Continuous or nocturnal oxygen therapy in hypoxemic chronic obstructive lung disease: a clinical trial. Ann. Intern. Med. 93(3), 391-398 (1980).
7. Medical Research Council Working Party: Long term domiciliary oxygen therapy in chronic hypoxic cor pulmonale complicating chronic bronchitis and emphysema. Report of the Medical Research Council Working Party. Lancet 1(8222), 681-686 (1981).
8. Ries AL, Bauldoff GS, Carlin BW et al.: Pulmonary rehabilitation: joint ACCP/ AACVPR evidence-based clinical practice guidelines. Chest 131(Suppl. 5), S4-S42 (2007).
9. Nichol KL, Baken L, Nelson A: Relation between infuenza vaccination and outpatient visits, hospitalization, and mortality in elderly persons with chronic lung disease. Ann. Intern. Med. 130(5), 397-403 (1999).
10. Dransfeld MT, Nahm MH, Han MK et al.: Superior immune response to protein-conjugate versus free pneumococcal polysaccharide vaccine in chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 180(6), 499-505 (2009).
11. Christie JD, Edwards LB, Aurora P et al.: The Registry of the International Society for Heart and Lung Transplantation: Twenty-sixth Offcial Adult Lung and Heart-Lung Transplantation Report-2009. J. Heart Lung Transplant. 28(10), 1031-1049 (2009).
12. Fishman A, Martinez F, Naunheim K et al.: A randomized trial comparing lung-volume-reduction surgery with medical therapy for severe emphysema. N. Engl. J. Med. 348(21), 2059-2073 (2003).
13. American Thoracic Society: Standards for the diagnosis and care of patients with chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 152(5 Pt 2), S77-S121 (1995).
14. Siafakas NM, Vermeire P, Pride NB et al.: Optimal assessment and management of chronic obstructive pulmonary disease (COPD). The European Respiratory Society Task Force. Eur. Respir. J. 8(8), 1398-1420 (1995)
15. The COPD Guidelines Group of the Standards of Care Committee of the BTS.: BTS guidelines for the management of chronic obstructive pulmonary disease. Thorax 52(Suppl. 5), S1-S28 (1997).
16. Hogg JC, Chu F, Utokaparch S et al.: The nature of small-airway obstruction in chronic obstructive pulmonary disease. N. Engl. J. Med. 350(26), 2645-2653 (2004).
17. Reilly JJ: COPD and declining FEV1-time to divide and conquer? N. Engl. J. Med. 359(15), 1616-1618 (2008).
18. Beasley R, Weatherall M, Travers J, Shirtcliffe P: Time to defne the disorders of the syndrome of COPD. Lancet 374(9691), 670-672 (2009).
19. Rennard SI, Vestbo J: The many 'small COPDs': COPD should be an orphan disease. Chest 134(3), 623-627 (2008).
20. Demeo DL, Hersh CP, Hoffman EA et al.: Genetic determinants of emphysema distribution in the National Emphysema Treatment Trial. Am. J. Respir. Crit. Care Med. 176(1), 42-48 (2007).
21. Ito I, Nagai S, Handa T et al.: Matrix metalloproteinase-9 promoter polymorphism associated with upper lung dominant emphysema. Am. J. Respir. Crit. Care Med. 172(11), 1378-1382 (2005).
22. Kim WJ, Oh YM, Sung J et al.: CT scanning-based phenotypes vary with ADRB2 polymorphisms in chronic obstructive pulmonary disease. Respir. Med. 103(1), 98-103 (2009).
23. Lieberman J, Winter B, Sastre A: a1-antitrypsin Pi-types in 965 COPD patients. Chest 89(3), 370-373 (1986).
24. Sandhaus RA, Turino G, Stocks J et al.: a1-antitrypsin augmentation therapy for PI*MZ heterozygotes: a cautionary note. Chest 134(4), 831-834 (2008)
25. National Emphysema Treatment Trial Research Group: Patients at high risk of death after lung-volume-reduction surgery. N. Engl. J. Med. 345(15), 1075-1083 (2001).
26. Berger RL, Wood KA, Cabral HJ et al.: Lung volume-reduction surgery: a meta-analysis of randomized clinical trials. Treat. Respir. Med. 4(3), 201-209 (2005).
27. Drummond MB, Blackford AL, Benditt JO et al.: Continuous oxygen use in nonhypoxemic emphysema patients identifes a high-risk subset of patients: retrospective analysis of the National Emphysema Treatment Trial. Chest 134(3), 497-506 (2008).
28. Kim WJ, Hersh CP, DeMeo DL, Reilly JJ, Silverman EK: Genetic association analysis of COPD candidate genes with bronchodilator responsiveness. Respir. Med. 103(4), 552-557 (2009).
29. Calverley PM, Burge PS, Spencer S, Anderson JA, Jones PW: Bronchodilator reversibility testing in chronic obstructive pulmonary disease. Thorax 58(8), 659-664 (2003).
30. Burge PS, Calverley PM, Jones PW, Spencer S, Anderson JA: Prednisolone response in patients with chronic obstructive pulmonary disease: results from the ISOLDE study. Thorax 58(8), 654-658 (2003).
31. Jones PW, Willits LR, Burge PS, Calverley PM: Disease severity and the effect of futicasone propionate on chronic obstructive pulmonary disease exacerbations. Eur. Respir. J. 21(1), 68-73 (2003).
32. Kohansal R, Martinez-Camblor P, Agusti A, Buist AS, Mannino DM, Soriano JB: The natural history of chronic airfow obstruction revisited: an analysis of the Framingham offspring cohort. Am. J. Respir. Crit. Care Med. 180(1), 3-10 (2009).
33. Mannino DM, Watt G, Hole D et al.: The natural history of chronic obstructive pulmonary disease. Eur. Respir. J. 27(3), 627-643 (2006).
34. Celli BR, Thomas NE, Anderson JA et al.: Effect of pharmacotherapy on rate of decline of lung function in chronic obstructive pulmonary disease: results from the TORCH study. Am. J. Respir. Crit. Care Med. 178(4), 332-338 (2008).
35. Tashkin DP, Celli B, Senn S et al.: A 4-year trial of tiotropium in chronic obstructive pulmonary disease. N. Engl. J. Med. 359(15), 1543-1554 (2008).
36. He JQ, Foreman MG, Shumansky K et al.: Associations of IL6 polymorphisms with lung function decline and COPD. Thorax 64(8), 698-704 (2009).
37. Sandford AJ, Chagani T, Weir TD, Connett JE, Anthonisen NR, Pare PD: Susceptibility genes for rapid decline of lung function in the Lung Health Study. Am. J. Respir. Crit. Care Med. 163(2), 469-473 (2001).
38. van Diemen CC, Postma DS, Vonk JM, Bruinenberg M, Schouten JP, Boezen HM: A disintegrin and metalloprotease 33 polymorphisms and lung function decline in the general population. Am. J. Respir. Crit. Care Med. 172(3), 329-333 (2005).
39. Imboden M, Downs SH, Senn O et al.: Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study. Respir. Res. 8, 2 (2007).
40. Siedlinski M, Postma DS, van Diemen CC, Blokstra A, Smit HA, Boezen HM: Lung function loss, smoking, vitamin C intake, and polymorphisms of the glutamate-cysteine ligase genes. Am. J. Respir. Crit. Care Med. 178(1), 13-19 (2008).
41. Siedlinski M, Boezen H, Boer JM, Smit HA, Postma DS: ABCC1 polymorphisms contribute to level and decline of lung function in two population-based cohorts. Pharmacogenet. Genomics 19(9), 675-684 (2009).
42. Franciosi LG, Page CP, Celli BR et al.: Markers of disease severity in chronic obstructive pulmonary disease. Pulm. Pharmacol. Ther. 19(3), 189-199 (2006).
43. Cazzola M, MacNee W, Martinez FJ et al.: Outcomes for COPD pharmacological trials: from lung function to biomarkers. Eur. Respir. J. 31(2), 416-469 (2008).
44. Miravitlles M, Murio C, Guerrero T, Gisbert R: Pharmacoeconomic evaluation of acute exacerbations of chronic bronchitis and COPD. Chest 121(5), 1449-1455 (2002).
45. Wang Q, Bourbeau J: Outcomes and health-related quality of life following hospitalization for an acute exacerbation of COPD. Respirology 10(3), 334-340 (2005).
46. Chapman KR, Mannino DM, Soriano JB et al.: Epidemiology and costs of chronic obstructive pulmonary disease. Eur. Respir. J. 27(1), 188-207 (2006).
47. Connors AF Jr, Dawson NV, Thomas C et al.; The Study to Understand Prognoses and Preferences for Outcomes and Risks of Treatments (SUPPORT) Investigators: Outcomes following acute exacerbation of severe chronic obstructive lung disease. Am. J. Respir. Crit. Care Med. 154(4 Pt 1), 959-967 (1996).
48. Anthonisen NR, Manfreda J, Warren CP, Hershfeld ES, Harding GK, Nelson NA: Antibiotic therapy in exacerbations of chronic obstructive pulmonary disease. Ann. Intern. Med. 106(2), 196-204 (1987).
49. Niewoehner DE, Lokhnygina Y, Rice K et al.: Risk indexes for exacerbations and hospitalizations due to COPD. Chest 131(1), 20-28 (2007).
50. Fan VS, Ramsey SD, Make BJ, Martinez FJ: Physiologic variables and functional status independently predict COPD hospitalizations and emergency department visits in patients with severe COPD. COPD 4(1), 29-39 (2007).
51. Papi A, Bellettato CM, Braccioni F et al.: Infections and airway infammation in chronic obstructive pulmonary disease severe exacerbations. Am. J. Respir. Crit. Care Med. 173(10), 1114-1121 (2006).
52. Yang IA, Seeney SL, Wolter JM et al.: Mannose-binding lectin gene polymorphism predicts hospital admissions for COPD infections. Genes Immun. 4(4), 269-274 (2003).
53. Takabatake N, Shibata Y, Abe S et al.: A single nucleotide polymorphism in the CCL1 gene predicts acute exacerbations in chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 174(8), 875-885 (2006).
54. Foreman MG, DeMeo DL, Hersh CP et al.: Polymorphic variation in surfactant protein B is associated with COPD exacerbations. Eur. Respir. J. 32(4), 938-944 (2008).
55. Dahl M, Bowler RP, Juul K, Crapo JD, Levy S, Nordestgaard BG: Superoxide dismutase 3 polymorphism associated with reduced lung function in two large populations. Am. J. Respir. Crit. Care Med. 178(9), 906-912 (2008).
56. Seersholm N, Wilcke JT, Kok-Jensen A, Dirksen A: Risk of hospital admission for obstructive pulmonary disease in a(1)-antitrypsin heterozygotes of phenotype PiMZ. Am. J. Respir. Crit. Care Med. 161(1), 81-84 (2000).
57. Celli BR, Cote CG, Marin JM et al.: The body-mass index, airfow obstruction, dyspnea, and exercise capacity index in chronic obstructive pulmonary disease. N. Engl. J. Med. 350(10), 1005-1012 (2004).
58. Hersh CP, Demeo DL, Lazarus R et al.: Genetic association analysis of functional impairment in chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 173(9), 977-984 (2006).
59. Hasegawa M, Nasuhara Y, Onodera Y et al.: Airfow limitation and airway dimensions in chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 173(12), 1309-1315 (2006).
60. Washko GR, Criner GJ, Mohsenifar Z et al.: Computed tomographic-based quantifcation of emphysema and correlation to pulmonary function and mechanics. COPD 5(3), 177-186 (2008).
61. Shaker SB, Dirksen A, Ulrik CS et al.: The effect of inhaled corticosteroids on the development of emphysema in smokers assessed by annual computed tomography. COPD 6(2), 104-111 (2009).
62. Dirksen A, Piitulainen E, Parr DG et al.: Exploring the role of CT densitometry: a randomised study of augmentation therapy in a1-antitrypsin defciency. Eur. Respir. J. 33(6), 1345-1353 (2009).
63. American Thoracic Society: Standardization of spirometry, 1994 update. Am. J. Respir. Crit. Care Med. 152(3), 1107-1136 (1995).
64. Celedon JC, Speizer FE, Drazen JM et al.: Bronchodilator responsiveness and serum total IgE levels in families of probands with severe early-onset COPD. Eur. Respir. J. 14(5), 1009-1014 (1999).
65. Palmer LJ, Celedon JC, Chapman HA, Speizer FE, Weiss ST, Silverman EK: Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary disease. Hum. Mol. Genet. 12(10), 1199-1210 (2003).
66. Lima JJ, Blake K V, Tantisira KG, Weiss ST: Pharmacogenetics of asthma. Curr. Opin. Pulm. Med. 15(1), 57-62 (2009).
67. Hawkins GA, Weiss ST, Bleecker ER: Clinical consequences of ADRb2 polymorphisms. Pharmacogenomics 9(3), 349-358 (2008).
68. 2 adrenergic receptor and bronchodilator response, bronchial hyperresponsiveness, and rate of decline in lung function in smokers. Thorax 58(8), 703-707 (2003).
69. 2-adrenergic receptor genetic polymorphisms and short-term bronchodilator responses in patients with COPD. Chest 132(5), 1485-1492 (2007).
70. 2-adrenergic receptor haplotype and bronchodilator response to salbutamol in patients with acute exacerbations of COPD. Med. Sci. Monit. 14(8), CR392-398 (2008).
71. Kim WJ, Oh YM, Sung J et al.: Lung function response to 12-week treatment with combined inhalation of long-acting b2 agonist and glucocorticoid according to ADRB2 polymorphism in patients with chronic obstructive pulmonary disease. Lung 186(6), 381-386 (2008).
72. 2-adrenoreceptor genotypes with bronchodilatory effect of tiotropium in COPD. Respirology 13(3), 346-352 (2008).
73. Chanock SJ, Manolio T, Boehnke M et al.: Replicating genotype-phenotype associations. Nature 447(7145), 655-660 (2007).
74. Hersh CP, Demeo DL, Lange C et al.: Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations. Am. J. Respir. Cell Mol. Biol. 33(1), 71-78 (2005).
75. Zhang X, Mahmudi-Azer S, Connett JE et al.: Association of Hck genetic polymorphisms with gene expression and COPD. Hum. Genet. 120(5), 681-690 (2007).
76. 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. 13(13), 1353-1359 (2004).
77. Kim WJ, Sheen SS, Kim TH et al.: Association between CRHR1 polymorphism and improved lung function in response to inhaled corticosteroid in patients with COPD. Respirology 14(2), 260-263 (2009).
78. Hersh CP, DeMeo DL, Reilly JJ, Silverman EK: Xenobiotic metabolizing enzyme gene polymorphisms predict response to lung volume-reduction surgery. Respir. Res. 8, 59 (2007).
79. Spira A, Beane J, Pinto-Plata V et al.: Gene expression profling of human lung tissue from smokers with severe emphysema. Am. J. Respir. Cell Mol. Biol. 31(6), 601-610 (2004).
80. Uhl GR, Liu QR, Drgon T et al.: Molecular genetics of successful smoking cessation: convergent genome-wide association study results. Arch. Gen. Psychiatry 65(6), 683-693 (2008).
81. Heitjan DF, Asch DA, Ray R, Rukstalis M, Patterson F, Lerman C: Cost-effectiveness of pharmacogenetic testing to tailor smoking-cessation treatment. Pharmacogenomics J. 8(6), 391-399 (2008).
82. Kortmann GL, Dobler CJ, Bizarro L, Bau CH: Pharmacogenetics of smoking cessation therapy. Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B(1), 17-28 (2010).
83. Uhl GR: Promise of pharmacogenomics in smoking cessation. Pharmacogenomics 10(7), 1123-1125 (2009).
84. Quaak M, van Schayck CP, Knaapen AM, van Schooten FJ: Genetic variation as a predictor of smoking cessation success. A promising preventive and intervention tool for chronic respiratory diseases? Eur. Respir. J. 33(3), 468-480 (2009).
85. Pillai SG, Ge D, Zhu G et al.: A genome-wide association study in chronic obstructive pulmonary disease (COPD): identifcation of two major susceptibility loci. PLoS Genet. 5(3), E1000421 (2009).
86. Amos CI, Wu X, Broderick P et al.: Genome-wide association scan of tag SNPs identifes a susceptibility locus for lung cancer at 15q25.1. Nat. Genet. 40(5), 616-622 (2008).
87. Hung RJ, McKay JD, Gaborieau V et al.: A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. Nature 452(7187), 633-637 (2008).
88. Thorgeirsson TE, Geller F, Sulem P et al.: A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. Nature 452(7187), 638-642 (2008).
89. Caporaso N, Gu F, Chatterjee N et al.: Genome-wide and candidate gene association study of cigarette smoking behaviors. PLoS One 4(2), e4653 (2009).
90. DeMeo DL, Mariani T, Bhattacharya S et al.: Integration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility gene. Am. J. Hum. Genet. 85(4), 493-502 (2009).
91. Joos L, McIntyre L, Ruan J et al.: Association of IL-1b and IL-1 receptor antagonist haplotypes with rate of decline in lung function in smokers. Thorax 56(11), 863-866 (2001).
92. He JQ, Ruan J, Connett JE, Anthonisen NR, Pare PD, Sandford AJ: Antioxidant gene polymorphisms and susceptibility to a rapid decline in lung function in smokers. Am. J. Respir. Crit. Care Med. 166(3), 323-328 (2002).
93. Joos L, He JQ, Shepherdson MB et al.: The role of matrix metalloproteinase polymorphisms in the rate of decline in lung function. Hum. Mol. Genet. 11(5), 569-576 (2002).
94. He JQ, Connett JE, Anthonisen NR, Sandford AJ: Polymorphisms in the IL13, IL13RA1, and IL4RA genes and rate of decline in lung function in smokers. Am. J. Respir. Cell Mol. Biol. 28(3), 379-385 (2003).
95. Ito I, Nagai S, Hoshino Y et al.: Risk and severity of COPD is associated with the group-specifc component of serum globulin 1F allele. Chest 125(1), 63-70 (2004).
96. Nakayama K, Kikuchi A, Yasuda H et al.: Heme oxygenase-1 gene promoter polymorphism and decline in lung function in Japanese men. Thorax 61(10), 921 (2006).
97. Takabatake N, Toriyama S, Igarashi A et al.: A novel polymorphism in CDC6 is associated with the decline in lung function of ex-smokers in COPD. Biochem. Biophys. Res. Commun. 381(4), 554-559 (2009).
98. Hansel NN, Gao L, Rafaels NM et al.: Leptin receptor polymorphisms and lung function decline in COPD. Eur. Respir. J. 34(1), 103-110 (2009).
99. Hersh CP, Hansel NN, Barnes KC et al.: Transforming growth factor-b receptor-3 is associated with pulmonary emphysema. Am. J. Respir. Cell Mol. Biol. 41(3), 324-331 (2009).