Biomarkers for precision medicine in airways disease

Annals of the New York Academy of Sciences

Volumn 1346, Issue 1, 2015, Pages 18-32

  Rooney, Claire ^b   Sethi, Tariq ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b NONE

Author keywords

Biomarkers; COPD; Precision medicine

Indexed keywords

ANKYRIN; BETA ADRENERGIC RECEPTOR STIMULATING AGENT; BIOLOGICAL MARKER; BRONCHODILATING AGENT; C REACTIVE PROTEIN; CORTICOSTEROID; FIBRINOGEN; INTERLEUKIN 6; INTERLEUKIN 8; MACROLIDE; MEMBRANE PROTEIN; MOXIFLOXACIN; NICOTINIC RECEPTOR; TUMOR NECROSIS FACTOR ALPHA; PROTEIN;

ARTICLE; ASTHMA; CHRONIC OBSTRUCTIVE LUNG DISEASE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; EXERCISE; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; GENETIC ASSOCIATION; MUCUS GLAND; OUTCOME ASSESSMENT; PHENOTYPE; RESPIRATORY TRACT DISEASE; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; COMMUNITY CARE; DIAGNOSTIC PROCEDURE; GENETICS; GENOMICS; HUMAN; METABOLISM; PERSONALIZED MEDICINE; PROCEDURES; PROTEOMICS; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; TRENDS;

BIOLOGICAL MARKERS; COMMUNITY NETWORKS; DIAGNOSTIC TECHNIQUES AND PROCEDURES; GENOMICS; HUMANS; INDIVIDUALIZED MEDICINE; PHENOTYPE; PROTEINS; PROTEOMICS; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84941753069     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1111/nyas.12809     Document Type: Article

References (87)

1. Jencks, S.F., M.V. Williams & E.A. Coleman. 2009. Rehospitalizations among patients in the Medicare fee-for-service program. N. Engl. J. Med. 360: 1418-1428.
2. WHO Report on the Global Tobacco Epidemic, 2008. The MPOWER Package. Geneva, World Health Organization, 2008.
3. Ciba Guest Symposium. 1959. Terminology, definitions, and classification of chronic pulmonary emphysema and related conditions. Thorax. 14: 286-299.
4. Briscoe, W.A. & E.S. Nash. 1965. The slow space in chronic obstructive pulmonary disease. Ann. N. Y. Acad. Sci. 121: 706-722.
5. Fletcher, C. & R. Peto. 1977. The natural history of chronic airflow obstruction. Br. Med. J. 1: 1645-1648.
6. Celli, B.R. & W. Macnee. 2004. ATS/ERS Task Force. Standards for the diagnosis and treatment of patients with COPD: a summary of the ATS/ERS position paper. Eur. Respir. J. 23: 932-946.
7. Global Strategy for the Diagnosis, Management and Prevention of COPD, Global Initiative for Chronic Obstructive Lung Disease (GOLD) 2014. Available from: http://www.goldcopd.org/
8. Dewan, N., S. Rafique, B. Kanwar, et al. 2000. Acute exacerbation of COPD. Factors associated with poor treatment outcome. Chest 117: 662-671.
9. Anthonisen, N.R., E.C. Wright, J.E. Hodgkin, the IPPB Trial Group. 1986. Prognosis in chronic obstructive pulmonary disease. Am. Rev. Respir. Dis. 133: 14-20.
10. Jones, P.W. 2009. Health status and the spiral of decline. COPD 6: 59-63.
11. Dornhorst, A.C. 1955. Respiratory insufficiency. Lancet 268: 1185e7.
12. Burrows, B., J.W. Bloom, G.A. Traver, et al. 1987. The course and prognosis of different forms of chronic airways obstruction in a sample from the general population. N. Engl. J. Med. 317: 1309e14.
13. Han, M.K., A. Agusti, P.M. Calverley, et al. 2010. Chronic obstructive pulmonary disease phenotypes: the future of COPD. Am. J. Respir. Crit. Care Med. 182: 598-604.
14. Wegner, R.E., R.A. Jorres, D.K. Kirsten, et al. 1994. Factor analysis of exercise capacity, dyspnoea ratings and lung function in patients with severe COPD. Eur. Respir. J. 7: 725e9.
15. Mahler, D.A. & A. Harver. 1992. A factor analysis of dyspnea ratings, respiratory muscle strength, and lung function in patients with chronic obstructive pulmonary disease. Am. Rev. Respir. Dis. 145: 467e70.
16. Ries, A.L., R.M. Kaplan & E. Blumberg. 1991. Use of factor analysis to consolidate multiple outcome measures in chronic obstructive pulmonary disease. J. Clin. Epidemiol. 44: 497e503.
17. Fuchs-Climent, D., D. LeGallais, A. Varray, et al. 2001. Factor analysis of quality of life, dyspnea, and physiologic variables in patients with chronic obstructive pulmonary disease before and after rehabilitation. Am. J. Phys. Med. Rehabil. 80: 113e20.
18. Lapperre, T.S., J.B. Snoeck-Stroband, M.M. Gosman, et al. 2004. Dissociation of lung function and airway inflammation in chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 170: 499e504.
19. Roy, K., J. Smith, U. Kolsum, et al. 2009. COPD phenotype description using principal components analysis. Respir. Res. 10: 41.
20. Fishman, A., F. Martinez, K. Naunheim, et al. 2003. A randomized trial comparing lung-volume-reduction surgery with medical therapy for severe emphysema. N. Engl. J. Med. 348: 2059-2073.
21. O'Brien, C.O., P.J. Guest, D.L. Hill & R.A. Stockley. 2000. Physiological and radiological characteristaion of patients diagnosed with chronic obstructive pulmonary disease in primary care. Thorax 55: 635-642.
22. Patel, I.S., I. Vlahos, T.M.A. Wilkinson, et al. 2004. Bronchiectasis, exacerbation indices, and inflammation in chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 170: 400-407.
23. Kim V., et al. 2011. COPDgene Investigators. The chronic bronchitic phenotype of COPD: an analysis of the COPD gene study. Chest. 140: 626.
24. Couper, D., SPIROMICS Research Group, et al. 2014. Design of the subpopulations and intermediate outcomes in COPD study (SPIROMICS). Thorax 69: 491-494.
25. Vestbo J., et al. 2008. ECLIPSE investigators. Evaluation of COPD longitudinally to identify predictive surrogate end-points (ECLIPSE). Eur. Respir. J. 31: 869-873.
26. Diagnosis of Diseases of Chronic Airflow Limitation: Asthma, COPD and Asthma-COPD Overlap Syndrome (ACOS). 2014. Based on the Global Strategy for Asthma Management and Prevention and the Global Strategy for the Diagnosis, Management and Prevention of Chronic Obstructive Pulmonary Disease. (GINA). www.ginasthma.org
27. Hurst, J.R., et al. 2010. Susceptibility to exacerbation in chronic obstructive pulmonary disease. N. Engl. J. Med. 363: 1128-1138.
28. Qiu, Y., J. Zhu, V. Bandi, R.L. Atmar, K. Hattotuwa, K.K. Guntupalli & P.K. Jeffery. 2003. Biopsy neutrophilia, neutrophil chemokine and receptor gene expression in severe exacerbations of chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 168: 968-975.
29. Papi, A., C.M. Bellettato, F. Braccioni, M. Romagnoli, P. Casolari, G. Caramori, L.M. Fabbri & S.L. Johnston. 2006. Infections and airway inflammation in chronic obstructive pulmonary disease severe exacerbations. Am. J. Respir. Crit. Care Med. 173: 1114-1121.
30. O'Donnell, D.E. & P. Laveneziana. 2006. The clinical importance of dynamic lung hyperinflation in COPD. COPD 3: 219-232.
31. Beasley, V., P.V. Joshi, A. Singanayagam, P.L. Molyneaux, S.L. Johnston & P. Mallia. 2012. Lung microbiology and exacerbations in COPD. Int. J. Chron. Obstruct. Pulmon. Dis. 7: 555-569.
32. Soler-Cataluna, J.J., M.A. Martinez-Garcia, P. Roman Sanchez, E. Salcedo, M. Navarro & R. Ochando. 2005. Severe acute exacerbations and mortality in patients with chronic obstructive pulmonary disease. Thorax 60: 925-931.
33. Suissa, S., S. Dell'Aniello & P. Ernst. 2012. Long-term natural history of chronic obstructive pulmonary disease: severe exacerbations and mortality. Thorax 67: 957-963.
34. Uzun, S., et al. 2014. Azithromycin maintenance treatment in patients with frequent exacerbations of chronic obstructive pulmonary disease (COLUMBUS): a randomised, double-blind, placebo-controlled trial. Lancet Respir. Med. 2: 361-368.
35. Donath, E., et al. 2013. A meta-analysis on the prophylactic use of macrolide antibiotics for the prevention of disease exacerbations in patients with chronic obstructive pulmonary disease. Respir. Med. 107: 1385-1392.
36. Sethi, S., PULSE Study group, et al. 2010. Pulsed moxifloxacin for the prevention of exacerbations of chronic obstructive pulmonary disease: a randomized controlled trial. Respir. Res. 11: 10.
37. Agusti, A., L.D. Edwards, S.I. Rennard, et al. 2012. Persistent systemic inflammation is associated with poor clinical outcomes in COPD: a novel phenotype. PLoS ONE 7: e37483.
38. Garcia-Aymerich, J., F.P. Gomez, M. Benet, et al. 2011. Identification and prospective validation of clinically relevant chronic obstructive pulmonary disease (COPD) subtypes. Thorax 66: 430
39. Vanfleteren, L.E., M.A. Spruit, M. Groenen, et al. 2013. Clusters of comorbidities based on validated objective measurements and systemic inflammation in patients with chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 187: 728-735.
40. Wardlaw, A.J., M. Silverman, R. Siva, et al. 2005. Multi-dimensional phenotyping: towards a new taxonomy for airway disease. Clin. Exp. Allergy 35: 1254e62.
41. Celli, B.R., C.G. Cote, J.M. Marin, et al. 2004. The body-mass index, airflow obstruction, dyspnea, and exercise capacity index in chronic obstructive pulmonary disease. N. Engl. J. Med. 350: 1005-1012.
42. Ong, K-C, A. Earnest & S-J. Lu. 2005. A Multidimensional grading system (BODE index) as predictor of hospitalization for COPD. Chest 128: 3810-3816.
43. Imfeld, S., K.E. Bloch, W. Weder, E.W. Russi. 2006. The BODE index after lung volume reduction surgery correlates with survival. Chest 129: 873-878.
44. Cote, C.G. & B.R. Celli. 2005. Pulmonary rehabilitation and the BODE index in COPD. Eur. Respir. J. 26: 630-636.
45. Pompeo, E. & T.C. Mineo. 2007. Two-year improvement in multidimensional body mass index, airflow obstruction, dyspnea, and exercise capacity index after nonresectional lung volume reduction surgery in awake patients. Ann. Thorac. Surg. 84: 1862-1869.
46. Puhan, M.A., J. Garcia-Aymerich, M. Frey, et al. 2009. Expansion of the prognostic assessment of patients with chronic obstructive pulmonary disease: the updated BODE index and the ADO index. Lancet 374: 704-711.
47. Jones, R.C., G.C. Donaldson, N.H. Chavannes, et al. 2009. Derivation and validation of a composite index of severity in chronic obstructive pulmonary disease: the DOSE index. Am. J. Respir. Crit. Care Med. 180: 1189-1195.
48. Dickens, J.A., B.E. Miller, L.D. Edwards, et al. 2011. COPD association and repeatability of blood biomarkers in the ECLIPSE cohort. Respir. Res. 12: 146.
49. Celli, B.R., N. Locantore, J. Yates, et al. 2012. Inflammatory biomarkers improve clinical prediction of mortality in chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 185: 1065-1072.
50. Duvoix, A., J. Dickens, I. Haq, et al. 2013. Blood fibrinogen as a biomarker of chronic obstructive pulmonary disease. Thorax 68: 670-676.
51. Dahl, M., A. Tybjaerg-Hansen, J. Vestbo, P. Lange & B.G. Nordestgaard. 2001. Elevated plasma fibrinogen associated with reduced pulmonary function and increased risk of chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 164: 1008-1011.
52. Thomsen, M., T.S. Ingebrigtsen, J.L. Marott, et al. 2013. Inflammatory biomarkers and exacerbations in chronic obstructive pulmonary disease. JAMA 309: 2353-2361.
53. Casaburi, R., B. Celli, J. Crapo, et al. 2013, The COPD Biomarker Qualification Consortium (CBQC). COPD 10: 367-377.
54. Man, S.F.P., L. Xing, J.E. Connett, N.R. Anthonisen, R.A. Wise, D.P. Tashkin, et al. 2008. Circulating fibronectin to C-reactive protein ratio and mortality: a biomarker in COPD? Eur. Respir. J. 32: 1451e7.
55. Lomas, D.A., E.K. Silverman, L.D. Edwards, et al. 2008. Evaluation of serum CC-16 as a biomarker for COPD in the ECLIPSE cohort. Thorax 63: 1058-1063.
56. Vestbo, J., L.D. Edwards, P.D. Scanlon, et al. 2011. Changes in forced expiratory volume in 1 second over time in COPD. N. Engl. J. Med. 365: 1184-1192.
57. Park, H.Y., A. Churg, J.L. Wright, et al. 2013. Club cell protein 16 and disease progression in chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 188: 1413-1419.
58. Lomas, D.A., E.K. Silverman, L.D. Edwards, et al. 2009. Serum surfactant protein D is steroid sensitive and associated with exacerbations of COPD. Eur. Respir. J. 34: 95-102.
59. Sin, D.D., B.E. Miller, A. Duvoix, et al. 2011. Serum PARC/CCL-18 concentrations and health outcomes in chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 183: 1187-1192.
60. Grydeland, T.B., A. Dirksen, H.O. Coxson, et al. 2010. Quantitative computed tomography measures of emphysema and airway wall thickness are related to respiratory symptoms. Am. J. Respir. Crit. Care Med. 181: 353-359.
61. Diaz, A.A., C. Valim, T. Yamashiro, et al. 2010. Airway count and emphysema assessed by chest CT imaging predicts clinical outcome in smokers. Chest 138: 880-887.
62. Galbán, C.J., M.K. Han, J.L. Boes, et al. 2012. CT-based Biomarker Provides Unique Signature for Diagnosis of COPD Phenotypes and Disease Progression. Nat. Med. 18: 1711-1715.
63. Litonjua, A.A., R. Lazarus, D. Sparrow, et al. 2005. Lung function in type 2 diabetes: the Normative Aging Study. Respir. Med. 99: 1583-1590.
64. National Emphysema Treatment Trial Research Group. 2003. A randomized trial comparing lung-volume-reduction surgery with medical therapy for severe emphysema. N. Engl. J. Med. 348: 2059-2073.
65. Bakke, P.S., G. Zhu, A. Gulsvik, et al. 2011. Candidate genes for COPD in two large data sets. Eur. Respir. J. 37: 255-263.
66. Hancock, D.B., M. Ejigelsheim, et al. 2010. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. Nat. Genet. 42: 45-52.
67. Thorgeirsson, T.E., F. Geller, P. Sulem, et al. 2008. A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. Nature 452: 638-642
68. Siedlinski, M., D. Tingley, P.J. Lipman, et al. 2013. Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility. Hum. Genet. 132: 431-441.
69. Qiu, W., M.H. Cho, J.H. Riley, et al. 2011. Genetics of sputum gene expression in chronic obstructive pulmonary disease. PLoS ONE 6: e24395.
70. Pillai, S.G., D. Ge, G. Zhu, et al. 2009. A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. PLoS Genet. 5: e1000421.
71. Hancock, D.B., M. Eijgelsheim, J.B. Wilk, et al. 2010. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. Nat. Genet. 42: 45-52.
72. Repapi, E., I. Sayers, L.V. Wain, et al. 2010. Genome-wide association study identifies five loci associated with lung function. Nat. Genet. 42: 36-44.
73. Zhou, X., R.M. Baron, M. Hardin, et al. 2012. Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP. Hum. Mol. Genet. 21: 1325-1335.
74. Zhou, X., W. Qiu, J.F. Sathirapongsasuti, et al. 2013. Gene expression analysis uncovers novel hedgehog interacting protein (HHIP) effects in human bronchial epithelial cells. Genomics 101: 263-272.
75. Vestbo, J., W. Anderson, H.O. Coxson, et al. 2008. Evaluation of COPD longitudinally to identify predictive surrogate end-points (ECLIPSE). Eur. Respir. J. 31: 869-873.
76. Cho, M.H., N. Boutaoui, B.J. Klanderman, et al. 2010. Variants in FAM13A are associated with chronic obstructive pulmonary disease. Nat. Genet. 42: 200-202.
77. Regan, E.A., J.E. Hokanson, J.R. Murphy, et al. 2010. Genetic epidemiology of COPD (COPDGene) study design. COPD 7: 32-43.
78. Silverman, E.K., H.A. Chapman, J.M. Drazen, et al. 1998. Genetic epidemiology of severe, early-onset chronic obstructive pulmonary disease. Risk to relatives for airflow obstruction and chronic bronchitis. Am. J. Respir. Crit. Care Med. 157: 1770-1778.
79. Lamontagne, M., C. Couture, D.S. Postma, W. Timens, D.D. Sin, P.D. Pare, J.C. Hogg, D. Nickle, M. Laviolette & Y. Bosse. 2013. Refining susceptibility loci of chronic obstructive pulmonary disease with lung eqtls. PLoS ONE 8: e70220.
80. Choo, J.Y., K.Y. Lee, C. Shin, S. Kim, S.K. Lee, E.Y. Kang, Y.W. Oh, S.H. Paik, B.H. Kim, B.K. Je, J.B. Lee. 2014. Quantitative analysis of lungs and airways with CT in subjects with the Chronic Obstructive Pulmonary Disease (COPD) candidate FAM13A Gene: case control study for CT quantification in COPD risk gene. J. Comput. Assist. Tomogr. 38: 597-603.
81. Pillai, S.G., X. Kong, L.D. Edwards, et al. 2010. Loci identified by genome-wide association studies influence different disease-related phenotypes in COPD. Am. J. Respir. Crit. Care Med. 182: 1498-1505.
82. Hansel, N., Ruczinski I., et al. 2013. Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD. Hum. Genet. 132: 79-90.
83. Kim, D.K., M.H. Cho, C.P. Hersh, et al. 2012. Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care. Med. 186: 1238-1247.
84. Menche, J., A. Sharma, M.H. Cho, et al. 2014. A divisive Shuffling Approach (vista) for gene expression analysis to identify subtypes in chronic obstructive pulmonary disease. BMC Syst. Biol. 8(Suppl. 2): S8.
85. Fletcher, C.M. 1960. Standardised questionnaire on respiratory symptoms: a statement prepared and approved by the MRC Committee on the Aetiology of Chronic Bronchitis (MRC breathlessness score). Br. Med. J. 2: 1965.
86. Cote, et al. 2008. The modified BODE index: validation with mortality in COPD. Eur. Respir. J. 32: 1269-1274.
87. Jones, P.W., G. Harding, P. Berry, et al. 2009. Development and first validation of the COPD Assessment Test. Eur. Respir. J. 34: 648-654.