Chronic obstructive pulmonary disease: Towards pharmacogenetics

Genome Medicine

Volumn 1, Issue 11, 2009, Pages

  Wood, Alice M ^a   Tan, See Ling ^b   Stockley, Robert A ^c  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b BIRMINGHAM HEARTLANDS HOSPITAL   (United Kingdom)

^c UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCYSTEINE; BETA ADRENERGIC RECEPTOR STIMULATING AGENT; BRONCHODILATING AGENT; CILOMILAST; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; INFLIXIMAB; LEUKOTRIENE RECEPTOR BLOCKING AGENT; MARIMASTAT; MONOCLONAL ANTIBODY; MONTELUKAST; PROTEINASE; RETINOIC ACID; ROFLUMILAST; STEROID; VELIFLAPON;

AUTOIMMUNE DISEASE; CHRONIC DISEASE; CHRONIC OBSTRUCTIVE LUNG DISEASE; CROHN DISEASE; DISEASE EXACERBATION; DISEASE SEVERITY; GASTROINTESTINAL TOXICITY; GENETICS; GENOTYPE; HEREDITY; HUMAN; INFLAMMATION; OXIDATIVE STRESS; PATHOPHYSIOLOGY; PHARMACOGENETICS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; RHEUMATOID ARTHRITIS; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE;

EID: 77958011279     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm112     Document Type: Review

References (117)

1. GOLD - the Global initiative for Obstructive Lung Disease. , http://www.goldcopd.org/
2. Pellegrino R, Viegi G, Brusasco V, Crapo RO, Burgos F, Casaburi R, Coates A, Grinten CP, Gustafsson P, Hankinson J, Jensen R, Johnson DC, MacIntyre N, McKay R, Miller MR, Navajas D, Pedersen OF, Wanger J. Interpretative strategies for lung function tests. Eur Respir J 2005, 26:948-968. 10.1183/09031936.05.00035205, 16264058.
3. Management of chronic obstructive pulmonary disease in adults in primary and secondary care. , http://www.nice.org.uk/nicemedia/pdf/CG012_niceguideline.pdf
4. American Thoracic Society Chronic bronchitis, asthma and pulmonary emphysema: a statement by the committee on diagnostic standards for non-tuberculous respiratory diseases. Am Rev Resp Dis 1962, 85:762-768. American Thoracic Society.
5. Snider G, Kleineman J, Thurlbeck W, Bengali Z. The definition of emphysema: a report of the National Heart, Lung and Blood Institute, Division of Lung Diseases Workshop. Am Rev Resp Dis 1985, 132:182-185.
6. Hogg JC, Chu F, Utokaparch S, Woods R, Elliott WM, Buzatu L, Cherniack RM, Rogers RM, Sciurba FC, Coxson HO, Pare PD. The nature of small-airway obstruction in chronic obstructive pulmonary disease. N Engl J Med 2004, 350:2645-2653. 10.1056/NEJMoa032158, 15215480.
7. Needham M, Stockley RA. Alpha 1-antitrypsin deficiency. 3: Clinical manifestations and natural history. Thorax 2004, 59:441-445. 10.1136/thx.2003.006510, 1746985, 15115878.
8. Parr DG, Stoel BC, Stolk J, Stockley RA. Pattern of emphysema distribution in alpha1-antitrypsin deficiency influences lung function impairment. Am J Respir Crit Care Med 2004, 170:1172-1178. 10.1164/rccm.200406-761OC, 15306534.
9. Demeo DL, Hersh CP, Hoffman EA, Litonjua AA, Lazarus R, Sparrow D, Benditt JO, Criner G, Make B, Martinez FJ, Scanlon PD, Sciurba FC, Utz JP, Reilly JJ, Silverman EK. Genetic determinants of emphysema distribution in the national emphysema treatment trial. Am J Respir Crit Care Med 2007, 176:42-48. 10.1164/rccm.200612-1797OC, 2049064, 17363767.
10. Ito I, Nagai S, Handa T, Muro S, Hirai T, Tsukino M, Mishima M. Matrix metalloproteinase-9 promoter polymorphism associated with upper lung dominant emphysema. Am J Respir Crit Care Med 2005, 172:1378-1382. 10.1164/rccm.200506-953OC, 16126934.
11. Halbert RJ, Natoli JL, Gano A, Badamgarav E, Buist AS, Mannino DM. Global burden of COPD: systematic review and meta-analysis. Eur Respir J 2006, 28:523-532. 10.1183/09031936.06.00124605, 16611654.
12. Office for National Statistics Mortality Statistics: Review of the Registrar General on Deaths by Cause, Sex and Age in England and Wales, 2005 2006, London: Office for National Statistics, Office for National Statistics.
13. Chronic obstructive pulmonary disease. National clinical guideline on management of chronic obstructive pulmonary disease in adults in primary and secondary care. Thorax 2004, 59(Suppl 1):1-232. 1766028, 15041752.
14. American Thoracic Society Cigarette smoking and health. Am J Respir Crit Care Med 1996, 153:861-865. American Thoracic Society.
15. Burrows B, Knudson R, Cline M, Lebowitz M. Quantitative relationship between cigarette smoking and ventilatory function. Am Rev Resp Dis 1977, 115:195-205.
16. Coultas DB, Hanis CL, Howard CA, Skipper BJ, Samet JM. Heritability of ventilatory function in smoking and nonsmoking New Mexico Hispanics. Am Rev Respir Dis 1991, 144:770-775.
17. Stockley RA. Neutrophils and protease/antiprotease imbalance. Am J Respir Crit Care Med 1999, 160:S49-S52.
18. Shapiro SD, Senior RM. Matrix metalloproteinases. Matrix degradation and more. Am J Respir Cell Mol Biol 1999, 20:1100-1102.
19. Eriksson S. Studies in alpha 1 antitrypsin deficiency. Acta Med Scand Suppl 1965, 432:1-85.
20. Barnes PJ, Shapiro SD, Pauwels RA. Chronic obstructive pulmonary disease: molecular and cellular mechanisms. Eur Respir J 2003, 22:672-688. 10.1183/09031936.03.00040703, 14582923.
21. Dery O, Corvera CU, Steinhoff M, Bunnett NW. Proteinase-activated receptors: novel mechanisms of signaling by serine proteases. Am J Physiol 1998, 274:C1429-C1452.
22. Hunninghake GW, Crystal RG. Cigarette smoking and lung destruction. Accumulation of neutrophils in the lungs of cigarette smokers. Am Rev Respir Dis 1983, 128:833-838.
23. Young RP, Hopkins R, Black PN, Eddy C, Wu L, Gamble GD, Mills GD, Garrett JE, Eaton TE, Rees MI. Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function. Thorax 2006, 61:394-399. 10.1136/thx.2005.048512, 2111196, 16467073.
24. MacNee W. Oxidants/antioxidants and COPD. Chest 2000, 117:303S-317S. 10.1378/chest.117.5_suppl_1.303S-a, 10843965.
25. Devlin RB, McDonnell WF, Becker S, Madden MC, McGee MP, Perez R, Hatch G, House DE, Koren HS. Time-dependent changes of inflammatory mediators in the lungs of humans exposed to 0.4 ppm ozone for 2 hr: a comparison of mediators found in bronchoalveolar lavage fluid 1 and 18 hr after exposure. Toxicol Appl Pharmacol 1996, 138:176-185. 10.1006/taap.1996.0111, 8658507.
26. Li XY, Gilmour PS, Donaldson K, MacNee W. Free radical activity and pro-inflammatory effects of particulate air pollution (PM10) in vivo and in vitro. Thorax 1996, 51:1216-1222. 10.1136/thx.51.12.1216, 472766, 8994518.
27. Zheng T, Zhu Z, Wang Z, Homer RJ, Ma B, Riese RJ, Chapman HA, Shapiro SD, Elias JA. Inducible targeting of IL-13 to the adult lung causes matrix metalloproteinase- and cathepsin-dependent emphysema. J Clin Invest 2000, 106:1081-1093. 10.1172/JCI10458, 301418, 11067861.
28. Churg A, Wang RD, Tai H, Wang X, Xie C, Wright JL. Tumor necrosis factor-alpha drives 70% of cigarette smoke-induced emphysema in the mouse. Am J Respir Crit Care Med 2004, 170:492-498. 10.1164/rccm.200404-511OC, 15184206.
29. Parr DG, White AJ, Bayley DL, Guest PJ, Stockley RA. Inflammation in sputum relates to progression of disease in subjects with COPD: a prospective descriptive study. Respir Res 2006, 7:136. 10.1186/1465-9921-7-136, 1664562, 17112387.
30. Gan WQ, Man SF, Senthilselvan A, Sin DD. Association between chronic obstructive pulmonary disease and systemic inflammation: a systematic review and a meta-analysis. Thorax 2004, 59:574-580. 10.1136/thx.2003.019588, 1747070, 15223864.
31. Patel BD, Coxson HO, Pillai SG, Agusti AG, Calverley PM, Donner CF, Make BJ, Muller NL, Rennard SI, Vestbo J, Wouters EF, Hiorns MP, Nakano Y, Camp PG, Nasute Fauerbach PV, Screaton NJ, Campbell EJ, Anderson WH, Pare PD, Levy RD, Lake SL, Silverman EK, Lomas DA. Airway wall thickening and emphysema show independent familial aggregation in chronic obstructive pulmonary disease. Am J Respir Crit Care Med 2008, 178:500-505. 10.1164/rccm.200801-059OC, 18565956.
32. Wood AM, Stockley RA. Alpha one antitrypsin deficiency: from gene to treatment. Respiration 2007, 74:481-492. 10.1159/000105536, 17671403.
33. Pillai SG, Ge D, Zhu G, Kong X, Shianna KV, Need AC, Feng S, Hersh CP, Bakke P, Gulsvik A, Ruppert A, Lodrup Carlsen KC, Roses A, Anderson W, Rennard SI, Lomas DA, Silverman EK, Goldstein DB. A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. PLoS Genet 2009, 5:e1000421. 10.1371/journal.pgen.1000421, 2650282, 19300482.
34. Vestbo J, Anderson W, Coxson HO, Crim C, Dawber F, Edwards L, Hagan G, Knobil K, Lomas DA, MacNee W, Silverman EK, Tal-Singer R. Evaluation of COPD longitudinally to identify predictive surrogate end-points (ECLIPSE). Eur Respir J 2008, 31:869-873. 10.1183/09031936.00111707, 18216052.
35. COPD Genetic Epidemiology. , http://www.copdgene.org
36. Colhoun HM, McKeigue PM, Davey Smith G. Problems of reporting genetic associations with complex outcomes. Lancet 2003, 361:865-872. 10.1016/S0140-6736(03)12715-8, 12642066.
37. Zhu G, Warren L, Aponte J, Gulsvik A, Bakke P, Anderson WH, Lomas DA, Silverman EK, Pillai SG. The SERPINE2 gene is associated with chronic obstructive pulmonary disease in two large populations. Am J Respir Crit Care Med 2007, 176:167-173. 10.1164/rccm.200611-1723OC, 17446335.
38. Kong X, Coxson HO, Lomas DA, Silverman EK, Pillai SG. Genome-wide association study (GWA) of high resolution CT defined emphysema phenotypes in two independent COPD populations [abstract]. Am J Respir Crit Care Med 2009, 179:A2444.
39. Wilk JB, Chen TH, Gottlieb DJ, Walter RE, Nagle MW, Brandler BJ, Myers RH, Borecki IB, Silverman EK, Weiss ST, O'Connor GT. A genome-wide association study of pulmonary function measures in the Framingham Heart Study. PLoS Genet 2009, 5:e1000429. 10.1371/journal.pgen.1000429, 2652834, 19300500.
40. Smolonska J, Wijmenga C, Postma DS, Boezen HM. Meta-analyses on suspected COPD genes - a summary of 20 years' research. Am J Respir Crit Care Med 2009, 180:618-631. 10.1164/rccm.200905-0722OC, 19608716.
41. Hu G, Shi Z, Hu J, Zou G, Peng G, Ran P. Association between polymorphisms of microsomal epoxide hydrolase and COPD: results from meta-analyses. Respirology 2008, 13:837-850. 10.1111/j.1440-1843.2008.01356.x, 18811882.
42. Gingo MR, Silveira LJ, Miller YE, Friedlander AL, Cosgrove GP, Chan ED, Maier LA, Bowler RP. Tumour necrosis factor gene polymorphisms are associated with COPD. Eur Respir J 2008, 31:1005-1012. 10.1183/09031936.00100307, 18256059.
43. Scott RW, Bergman BL, Bajpai A, Hersh RT, Rodriguez H, Jones BN, Barreda C, Watts S, Baker JB. Protease nexin. Properties and a modified purification procedure. J Biol Chem 1985, 260:7029-7034.
44. Baker JB, Low DA, Simmer RL, Cunningham DD. Protease-nexin: a cellular component that links thrombin and plasminogen activator and mediates their binding to cells. Cell 1980, 21:37-45. 10.1016/0092-8674(80)90112-9, 6157479.
45. Silverman EK, Mosley JD, Palmer LJ, Barth M, Senter JM, Brown A, Drazen JM, Kwiatkowski DJ, Chapman HA, Campbell EJ, Province MA, Rao DC, Reilly JJ, Ginns LC, Speizer FE, Weiss ST. Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes. Hum Mol Genet 2002, 11:623-632. 10.1093/hmg/11.6.623, 11912177.
46. Silverman EK, Palmer LJ, Mosley JD, Barth M, Senter JM, Brown A, Drazen JM, Kwiatkowski DJ, Chapman HA, Campbell EJ, Province MA, Rao DC, Reilly JJ, Ginns LC, Speizer FE, Weiss ST. Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease. Am J Hum Genet 2002, 70:1229-1239. 10.1086/340316, 447597, 11914989.
47. Demeo DL, Mariani TJ, Lange C, Srisuma S, Litonjua AA, Celedon JC, Lake SL, Reilly JJ, Chapman HA, Mecham BH, Haley KJ, Sylvia JS, Sparrow D, Spira AE, Beane J, Pinto-Plata V, Speizer FE, Shapiro SD, Weiss ST, Silverman EK. The SERPINE2 gene is associated with chronic obstructive pulmonary disease. Am J Hum Genet 2006, 78:253-264. 10.1086/499828, 1380249, 16358219.
48. Chappell S, Daly L, Morgan K, Baranes TG, Roca J, Rabinovich R, Millar A, Donnelly SC, Keatings V, MacNee W, Stolk J, Hiemstra PS, Miniati M, Monti S, O'Connor CM, Kalsheker N. The SERPINE2 gene and chronic obstructive pulmonary disease. Am J Hum Genet 2006, 79:184-186. author reply 186-187, 10.1086/505268, 1474124, 16773582.
49. Ashitani J, Mukae H, Arimura Y, Matsukura S. Elevated plasma procoagulant and fibrinolytic markers in patients with chronic obstructive pulmonary disease. Intern Med 2002, 41:181-185. 10.2169/internalmedicine.41.181, 11929177.
50. Wang IM, Stepaniants S, Boie Y, Mortimer JR, Kennedy B, Elliott M, Hayashi S, Loy L, Coulter S, Cervino S, Harris J, Thornton M, Raubertas R, Roberts C, Hogg JC, Crackower M, O'Neill G, Pare PD. Gene expression profiling in patients with chronic obstructive pulmonary disease and lung cancer. Am J Respir Crit Care Med 2008, 177:402-411. 10.1164/rccm.200703-390OC, 17975202.
51. Bak M, Hansen C, Friis Henriksen K, Tommerup N. The human hedgehog-interacting protein gene: structure and chromosome mapping to 4q31.21 q31.3. Cytogenet Cell Genet 2001, 92:300-303. 10.1159/000056918, 11435703.
52. Gao B, Hu J, Stricker S, Cheung M, Ma G, Law KF, Witte F, Briscoe J, Mundlos S, He L, Cheah KS, Chan D. A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. Nature 2009, 458:1196-1200. 10.1038/nature07862, 19252479.
53. Rennard SI, Fogarty C, Kelsen S, Long W, Ramsdell J, Allison J, Mahler D, Saadeh C, Siler T, Snell P, Korenblat P, Smith W, Kaye M, Mandel M, Andrews C, Prabhu R, Donohue JF, Watt R, Lo KH, Schlenker-Herceg R, Barnathan ES, Murray J. The safety and efficacy of infliximab in moderate to severe chronic obstructive pulmonary disease. Am J Respir Crit Care Med 2007, 175:926-934. 10.1164/rccm.200607-995OC, 17290043.
54. Celli BR, MacNee W. Standards for the diagnosis and treatment of patients with COPD: a summary of the ATS/ERS position paper. Eur Respir J 2004, 23:932-946. 10.1183/09031936.04.00014304, 15219010.
55. Hopkinson NS, Li KW, Kehoe A, Humphries SE, Roughton M, Moxham J, Montgomery H, Polkey MI. Vitamin D receptor genotypes influence quadriceps strength in chronic obstructive pulmonary disease. Am J Clin Nutr 2008, 87:385-390.
56. Lima JJ, Blake KV, Tantisira KG, Weiss ST. Pharmacogenetics of asthma. Curr Opin Pulm Med 2009, 15:57-62. 10.1097/MCP.0b013e32831da8be, 19077707.
57. Perez-Soler R. Individualized therapy in non-small-cell lung cancer: future versus current clinical practice. Oncogene 2009, 28(Suppl 1):S38-S45. 10.1038/onc.2009.200, 19680295.
58. Koster ES, Raaijmakers JA, Koppelman GH, Postma DS, Ent CK, Koenderman L, Bracke M, Maitland-van der Zee AH. Pharmacogenetics of anti-inflammatory treatment in children with asthma: rationale and design of the PACMAN cohort. Pharmacogenomics 2009, 10:1351-1361. 10.2217/pgs.09.79, 19663678.
59. Asano K, Nakade S, Shiomi T, Nakajima T, Suzuki Y, Fukunaga K, Oguma T, Sayama K, Fujita H, Tanigawara Y, Ishizaka A. Impact of pharmacokinetics and pharmacogenetics on the efficacy of pranlukast in Japanese asthmatics. Respirology 2009, 14:822-827. 10.1111/j.1440-1843.2009.01552.x, 19703064.
60. Salpeter SR, Buckley NS, Ormiston TM, Salpeter EE. Meta-analysis: effect of long-acting beta-agonists on severe asthma exacerbations and asthma-related deaths. Ann Intern Med 2006, 144:904-912.
61. 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. 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.
62. Wechsler ME, Lehman E, Lazarus SC, Lemanske RF, Boushey HA, Deykin A, Fahy JV, Sorkness CA, Chinchilli VM, Craig TJ, DiMango E, Kraft M, Leone F, Martin RJ, Peters SP, Szefler SJ, Liu W, Israel E. Beta-Adrenergic receptor polymorphisms and response to salmeterol. Am J Respir Crit Care Med 2006, 173:519-526. 10.1164/rccm.200509-1519OC, 2662935, 16322642.
63. Hegab AE, Sakamoto T, Saitoh W, Massoud HH, Massoud HM, Hassanein KM, Sekizawa K. Polymorphisms of IL4, IL13, and ADRB2 genes in COPD. Chest 2004, 126:1832-1839. 10.1378/chest.126.6.1832, 15596681.
64. Calverley PM, Burge PS, Spencer S, Anderson JA, Jones PW. Bronchodilator reversibility testing in chronic obstructive pulmonary disease. Thorax 2003, 58:659-664. 10.1136/thorax.58.8.659, 1746778, 12885978.
65. Jeffery PK, Venge P, Gizycki MJ, Egerod I, Dahl R, Faurschou P. Effects of salmeterol on mucosal inflammation in asthma: a placebo-controlled study. Eur Respir J 2002, 20:1378-1385. 10.1183/09031936.02.00542001, 12503692.
66. Lee SH, Goswami S, Grudo A, Song LZ, Bandi V, Goodnight-White S, Green L, Hacken-Bitar J, Huh J, Bakaeen F, Coxson HO, Cogswell S, Storness-Bliss C, Corry DB, Kheradmand F. Antielastin autoimmunity in tobacco smoking-induced emphysema. Nat Med 2007, 13:567-569. 10.1038/nm1583, 17450149.
67. Feghali-Bostwick CA, Gadgil AS, Otterbein LE, Pilewski JM, Stoner MW, Csizmadia E, Zhang Y, Sciurba FC, Duncan SR. Autoantibodies in patients with chronic obstructive pulmonary disease. Am J Respir Crit Care Med 2008, 177:156-163. 10.1164/rccm.200701-014OC, 2204079, 17975205.
68. Zhu G, Agusti A, Gulsvik A, Bakke P, Coxson H, Lomas DA, Silverman EK, Pillai SG. CTLA4 gene polymorphisms are associated with chronic bronchitis. Eur Respir J 2009, 34:598-604. 10.1183/09031936.00141808, 19386687.
69. Wood AM, Ahmad A, Stockley RA. Anti-elastin autoimmunity in emphysema related to alpha-1-antitrypsin deficiency. Am J Respir Crit Care Med 2009, 179:A1009.
70. Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, Rainbow DB, Hunter KM, Smith AN, Di Genova G, Herr MH, Dahlman I, Payne F, Smyth D, Lowe C, Twells RC, Howlett S, Healy B, Nutland S, Rance HE, Everett V, Smink LJ, Lam AC, Cordell HJ, Walker NM, Bordin C, Hulme J, Motzo C, Cucca F, Hess JF, et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003, 423:506-511. 10.1038/nature01621, 12724780.
71. Simmonds MJ, Gough SC. The HLA region and autoimmune disease: associations and mechanisms of action. Curr Genomics 2007, 8:453-465. 10.2174/138920207783591690, 2647156, 19412418.
72. Rennard SI, Schachter N, Strek M, Rickard K, Amit O. Cilomilast for COPD: results of a 6-month, placebo-controlled study of a potent, selective inhibitor of phosphodiesterase 4. Chest 2006, 129:56-66. 10.1378/chest.129.1.56, 16424413.
73. Compton CH, Gubb J, Nieman R, Edelson J, Amit O, Bakst A, Ayres JG, Creemers JP, Schultze-Werninghaus G, Brambilla C, Barnes NC. Cilomilast, a selective phosphodiesterase-4 inhibitor for treatment of patients with chronic obstructive pulmonary disease: a randomised, dose-ranging study. Lancet 2001, 358:265-270. 10.1016/S0140-6736(01)05481-2, 11498212.
74. Rabe KF, Bateman ED, O'Donnell D, Witte S, Bredenbroker D, Bethke TD. Roflumilast--an oral anti-inflammatory treatment for chronic obstructive pulmonary disease: a randomised controlled trial. Lancet 2005, 366:563-571. 10.1016/S0140-6736(05)67100-0, 16099292.
75. Homma S, Sakamoto T, Hegab AE, Saitoh W, Nomura A, Ishii Y, Morishima Y, Iizuka T, Kiwamoto T, Matsuno Y, Massoud HH, Massoud HM, Hassanein KM, Sekizawa K. Association of phosphodiesterase 4D gene polymorphisms with chronic obstructive pulmonary disease: relationship to interleukin 13 gene polymorphism. Int J Mol Med 2006, 18:933-939.
76. Sparano JA, Bernardo P, Stephenson P, Gradishar WJ, Ingle JN, Zucker S, Davidson NE. Randomized phase III trial of marimastat versus placebo in patients with metastatic breast cancer who have responding or stable disease after first-line chemotherapy: Eastern Cooperative Oncology Group trial E2196. J Clin Oncol 2004, 22:4683-4690. 10.1200/JCO.2004.08.054, 15570070.
77. Sevenoaks MJ, Stockley RA. Chronic obstructive pulmonary disease, inflammation and co-morbidity--a common inflammatory phenotype?. Respir Res 2006, 7:70. 10.1186/1465-9921-7-70, 1479815, 16669999.
78. Wellcome Trust Case Control Consortium Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007, 447:661-678. 10.1038/nature05911, 2719288, 17554300, Wellcome Trust Case Control Consortium.
79. Seitz M, Wirthmuller U, Moller B, Villiger PM. The -308 tumour necrosis factor-alpha gene polymorphism predicts therapeutic response to TNFalpha-blockers in rheumatoid arthritis and spondyloarthritis patients. Rheumatology (Oxford) 2007, 46:93-96. 10.1093/rheumatology/kel175, 16720636.
80. Soyseth V, Brekke PH, Smith P, Omland T. Statin use is associated with reduced mortality in COPD. Eur Respir J 2007, 29:279-283. 10.1183/09031936.00106406, 17050558.
81. Chasman DI, Posada D, Subrahmanyan L, Cook NR, Stanton VP, Ridker PM. Pharmacogenetic study of statin therapy and cholesterol reduction. JAMA 2004, 291:2821-2827. 10.1001/jama.291.23.2821, 15199031.
82. Tan SL, Wood AM. Chronic obstructive pulmonary disease and co-morbidities: a review and consideration of pathophysiology. Panminerva Med 2009, 51:81-93.
83. Wilk JB, Walter RE, Laramie JM, Gottlieb DJ, O'Connor GT. Framingham Heart Study genome-wide association: results for pulmonary function measures. BMC Med Genet 2007, 8(Suppl 1):S8. 10.1186/1471-2350-8-S1-S8, 1995616, 17903307.
84. Vozarova B, Fernandez-Real JM, Knowler WC, Gallart L, Hanson RL, Gruber JD, Ricart W, Vendrell J, Richart C, Tataranni PA, Wolford JK. The interleukin-6 (-174) G/C promoter polymorphism is associated with type-2 diabetes mellitus in Native Americans and Caucasians. Hum Genet 2003, 112:409-413.
85. Yasmin, McEniery CM, O'Shaughnessy KM, Harnett P, Arshad A, Wallace S, Maki-Petaja K, McDonnell B, Ashby MJ, Brown J, Cockcroft JR, Wilkinson IB. Variation in the human matrix metalloproteinase-9 gene is associated with arterial stiffness in healthy individuals. Arterioscler Thromb Vasc Biol 2006, 26:1799-1805. 10.1161/01.ATV.0000227717.46157.32, 16709939.
86. Hersh CP, Demeo DL, Lange C, Litonjua AA, Reilly JJ, Kwiatkowski D, Laird N, Sylvia JS, Sparrow D, Speizer FE, Weiss ST, Silverman EK. Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations. Am J Respir Cell Mol Biol 2005, 33:71-78. 10.1165/rcmb.2005-0073OC, 2715305, 15817713.
87. Hersh CP, Demeo DL, Lazarus R, Celedon JC, Raby BA, Benditt JO, Criner G, Make B, Martinez FJ, Scanlon PD, Sciurba FC, Utz JP, Reilly JJ, Silverman EK. Genetic association analysis of functional impairment in chronic obstructive pulmonary disease. Am J Respir Crit Care Med 2006, 173:977-984. 10.1164/rccm.200509-1452OC, 2662917, 16456143.
88. Smith CA, Harrison DJ. Association between polymorphism in gene for microsomal epoxide hydrolase and susceptibility to emphysema. Lancet 1997, 350:630-633. 10.1016/S0140-6736(96)08061-0, 9288046.
89. Yoshikawa M, Hiyama K, Ishioka S, Maeda H, Maeda A, Yamakido M. Microsomal epoxide hydrolase genotypes and chronic obstructive pulmonary disease in Japanese. Int J Mol Med 2000, 5:49-53.
90. 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 2001, 163:469-473.
91. Ishii T, Keicho N, Teramoto S, Azuma A, Kudoh S, Fukuchi Y, Ouchi Y, Matsuse T. Association of Gc-globulin variation with susceptibility to COPD and diffuse panbronchiolitis. Eur Respir J 2001, 18:753-757. 10.1183/09031936.01.00094401, 11757623.
92. Horne SL, Cockcroft DW, Dosman JA. Possible protective effect against chronic obstructive airways disease by the GC2 allele. Hum Hered 1990, 40:173-176. 10.1159/000153926, 2365378.
93. Schellenberg D, Pare PD, Weir TD, Spinelli JJ, Walker BA, Sandford AJ. Vitamin D binding protein variants and the risk of COPD. Am J Respir Crit Care Med 1998, 157:957-961.
94. Harrison DJ, Cantlay AM, Rae F, Lamb D, Smith CA. Frequency of glutathione S-transferase M1 deletion in smokers with emphysema and lung cancer. Hum Exp Toxicol 1997, 16:356-360. 10.1177/096032719701600703, 9257159.
95. He JQ, Connett JE, Anthonisen NR, Pare PD, Sandford AJ. Glutathione S-transferase variants and their interaction with smoking on lung function. Am J Respir Crit Care Med 2004, 170:388-394. 10.1164/rccm.200312-1763OC, 15184197.
96. Baranova H, Perriot J, Albuisson E, Ivaschenko T, Baranov VS, Hemery B, Mouraire P, Riol N, Malet P. Peculiarities of the GSTM1 0/0 genotype in French heavy smokers with various types of chronic bronchitis. Hum Genet 1997, 99:822-826. 10.1007/s004390050455, 9187680.
97. 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 2002, 166:323-328. 10.1164/rccm.2111059, 12153964.
98. Gilliland FD, Gauderman WJ, Vora H, Rappaport E, Dubeau L. Effects of glutathione-S-transferase M1, T1, and P1 on childhood lung function growth. Am J Respir Crit Care Med 2002, 166:710-716. 10.1164/rccm.2112065, 12204870.
99. Ishii T, Matsuse T, Teramoto S, Matsui H, Miyao M, Hosoi T, Takahashi H, Fukuchi Y, Ouchi Y. Glutathione S-transferase P1 (GSTP1) polymorphism in patients with chronic obstructive pulmonary disease. Thorax 1999, 54:693-696. 1745535, 10413721.
100. Guenegou A, Leynaert B, Benessiano J, Pin I, Demoly P, Neukirch F, Boczkowski J, Aubier M. Association of lung function decline with the heme oxygenase-1 gene promoter microsatellite polymorphism in a general population sample. Results from the European Community Respiratory Health Survey (ECRHS), France. J Med Genet 2006, 43:e43. 10.1136/jmg.2005.039743, 2564599, 16882737.
101. Yamada N, Yamaya M, Okinaga S, Nakayama K, Sekizawa K, Shibahara S, Sasaki H. Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema. Am J Hum Genet 2000, 66:187-195. 10.1086/302729, 1288325, 10631150.
102. Minematsu N, Nakamura H, Tateno H, Nakajima T, Yamaguchi K. Genetic polymorphism in matrix metalloproteinase-9 and pulmonary emphysema. Biochem Biophys Res Commun 2001, 289:116-119. 10.1006/bbrc.2001.5936, 11708786.
103. Zhou M, Huang SG, Wan HY, Li B, Deng WW, Li M. Genetic polymorphism in matrix metalloproteinase-9 and the susceptibility to chronic obstructive pulmonary disease in Han population of south China. Chin Med J (Engl) 2004, 117:1481-1484.
104. Poller W, Faber JP, Weidinger S, Tief K, Scholz S, Fischer M, Olek K, Kirchgesser M, Heidtmann HH. A leucine-to-proline substitution causes a defective alpha 1-antichymotrypsin allele associated with familial obstructive lung disease. Genomics 1993, 17:740-743. 10.1006/geno.1993.1396, 8244391.
105. Poller W, Faber JP, Scholz S, Weidinger S, Bartholome K, Olek K, Eriksson S. Mis-sense mutation of alpha 1-antichymotrypsin gene associated with chronic lung disease. Lancet 1992, 339:1538. 10.1016/0140-6736(92)91301-N, 1351206.
106. Foreman MG, Demeo DL, Hersh CP, Carey VJ, Fan VS, Reilly JJ, Shapiro SD, Silverman EK. Polymorphic variation in surfactant protein B is associated with COPD exacerbations. Eur Respir J 2008, 32:938-944. 10.1183/09031936.00040208, 2761762, 18550614.
107. Celedon JC, Lange C, Raby BA, Litonjua AA, Palmer LJ, DeMeo DL, Reilly JJ, Kwiatkowski DJ, Chapman HA, Laird N, Sylvia JS, Hernandez M, Speizer FE, Weiss ST, Silverman EK. The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD). Hum Mol Genet 2004, 13:1649-1656. 10.1093/hmg/ddh171, 15175276.
108. Sakao S, Tatsumi K, Igari H, Shino Y, Shirasawa H, Kuriyama T. Association of tumor necrosis factor alpha gene promoter polymorphism with the presence of chronic obstructive pulmonary disease. Am J Respir Crit Care Med 2001, 163:420-422.
109. Sakao S, Tatsumi K, Igari H, Watanabe R, Shino Y, Shirasawa H, Kuriyama T. Association of tumor necrosis factor-alpha gene promoter polymorphism with low attenuation areas on high-resolution CT in patients with COPD. Chest 2002, 122:416-420. 10.1378/chest.122.2.416, 12171811.
110. Huang SL, Su CH, Chang SC. Tumor necrosis factor-alpha gene polymorphism in chronic bronchitis. Am J Respir Crit Care Med 1997, 156:1436-1439.
111. Gompertz S, Stockley RA. A randomized, placebo-controlled trial of a leukotriene synthesis inhibitor in patients with COPD. Chest 2002, 122:289-294. 10.1378/chest.122.1.289, 12114372.
112. Mahler DA, Huang S, Tabrizi M, Bell GM. Efficacy and safety of a monoclonal antibody recognizing interleukin-8 in COPD: a pilot study. Chest 2004, 126:926-934. 10.1378/chest.126.3.926, 15364775.
113. Decramer M, Rutten-van Molken M, Dekhuijzen PN, Troosters T, van Herwaarden C, Pellegrino R, van Schayck CP, Olivieri D, Del Donno M, De Backer W, Lankhorst I, Ardia A. Effects of N-acetylcysteine on outcomes in chronic obstructive pulmonary disease (Bronchitis Randomized on NAC Cost-Utility Study, BRONCUS): a randomised placebo-controlled trial. Lancet 2005, 365:1552-1560. 10.1016/S0140-6736(05)66456-2, 15866309.
114. Bruce C, Thomas PS. The effect of marimastat, a metalloprotease inhibitor, on allergen-induced asthmatic hyper-reactivity. Toxicol Appl Pharmacol 2005, 205:126-132. 10.1016/j.taap.2004.10.005, 15893540.
115. Mao JT, Goldin JG, Dermand J, Ibrahim G, Brown MS, Emerick A, McNitt-Gray MF, Gjertson DW, Estrada F, Tashkin DP, Roth MD. A pilot study of all-trans-retinoic acid for the treatment of human emphysema. Am J Respir Crit Care Med 2002, 165:718-723.
116. Celik P, Sakar A, Havlucu Y, Yuksel H, Turkdogan P, Yorgancioglu A. Short-term effects of montelukast in stable patients with moderate to severe COPD. Respir Med 2005, 99:444-450. 10.1016/j.rmed.2004.09.008, 15763450.
117. Rubinstein I, Kumar B, Schriever C. Long-term montelukast therapy in moderate to severe COPD--a preliminary observation. Respir Med 2004, 98:134-138. 10.1016/j.rmed.2003.09.003, 14971876.