The clinical and genetic features of COPD-asthma overlap syndrome

European Respiratory Journal

Volumn 44, Issue 2, 2014, Pages 341-350

  Hardin, Megan ^a,b   Cho, Michael ^a,b   McDonald, Merry Lynn ^a   Beaty, Terri ^c   Ramsdell, Joe ^d   Bhatt, Surya ^e   Van Beek, Edwin J R ^f   Make, Barry J ^g   Crapo, James D ^g   Silverman, Edwin K ^a,b   Hersh, Craig P ^a,b  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c JOHNS HOPKINS UNIVERSITY   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^f UNIVERSITY OF EDINBURGH   (United Kingdom)

^g DEPARTMENT OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR SOX5;

ADULT; AFRICAN AMERICAN; AGED; ALLERGIC ASTHMA; ARTICLE; ASTHMA; BODY MASS; CAUCASIAN; CHRONIC OBSTRUCTIVE LUNG DISEASE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CSMD1 GENE; DISEASE EXACERBATION; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GPR65 GENE; HUMAN; LUNG EMPHYSEMA; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; SOX5 GENE; ADVERSE EFFECTS; COMORBIDITY; COMPLICATION; EMPHYSEMA; FORCED EXPIRATORY VOLUME; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MIDDLE AGED; RISK FACTOR; STATISTICAL MODEL; THORAX RADIOGRAPHY; VERY ELDERLY;

ADULT; AFRICAN AMERICANS; AGED; AGED, 80 AND OVER; ASTHMA; COMORBIDITY; EMPHYSEMA; FEMALE; FORCED EXPIRATORY VOLUME; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MODELS, STATISTICAL; POLYMORPHISM, SINGLE NUCLEOTIDE; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; RADIOGRAPHY, THORACIC; RISK FACTORS; SMOKING; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84905660075     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/09031936.00216013     Document Type: Article

References (37)

1. Soriano JB, Davis KJ, Coleman B, et al. The proportional Venn diagram of obstructive lung disease: two approximations from the United States and the United Kingdom. Chest 2003; 124: 474-481. (Pubitemid 37000122)
2. de Marco R, Pesce G, Marcon A, et al. The coexistence of asthma and chronic obstructive pulmonary disease (COPD): prevalence and risk factors in young, middle-aged and elderly people from the general population. PLoS One 2013; 8: e62985.
3. Hardin M, Silverman EK, Barr RG, et al. The clinical features of the overlap between COPD and asthma. Respir Res 2011; 12: 127.
4. Miravitlles M, Soler-Cataluna JJ, Calle M, et al. A new approach to grading and treating COPD based on clinical phenotypes: summary of the Spanish COPD guidelines (GesEPOC). Prim Care Respir J 2013; 22: 117-121.
5. O'Donnell DE, Aaron S, Bourbeau J, et al. Canadian Thoracic Society recommendations for management of chronic obstructive pulmonary disease - 2007 update. Can Respir J 2007; 14: Suppl. B, 5B-32B.
6. Nagai A. [Guidelines for the diagnosis and management of chronic obstructive pulmonary disease: 3rd edition]. Nihon Rinsho 2011; 69: 1729-1734.
7. Meyers DA, Larj MJ, Lange L. Genetics of asthma and COPD. Similar results for different phenotypes. Chest 2004; 126: Suppl. 2, 105S-110S. (Pubitemid 39093399)
8. Postma DS, Kerkhof M, Boezen HM, et al. Asthma and chronic obstructive pulmonary disease: common genes, common environments? Am J Respir Crit Care Med 2011; 183: 1588-1594.
9. Regan EA, Hokanson JE, Murphy JR, et al. Genetic epidemiology of COPD (COPDGene) study design. COPD 2010; 7: 32-43.
10. Miller MR, Hankinson J, Brusasco V, et al. Standardisation of spirometry. Eur Respir J 2005; 26: 319-338. (Pubitemid 41079078)
11. Fedorov A, Beichel R, Kalpathy-Cramer J, et al. 3D slicer as an image computing platform for the quantitative imaging network. Magn Reson Imaging 2012; 30: 1323-1341.
12. Nakano Y, Wong JC, de Jong PA, et al. The prediction of small airway dimensions using computed tomography. Am J Respir Crit Care Med 2005; 171: 142-146. (Pubitemid 40105413)
13. Kim YI, Schroeder J, Lynch D, et al. Gender differences of airway dimensions in anatomically matched sites on CT in smokers. COPD 2011; 8: 285-292.
14. Busacker A, Newell JD Jr, Keefe T, et al. A multivariate analysis of risk factors for the air-trapping asthmatic phenotype as measured by quantitative CT analysis. Chest 2009; 135: 48-56.
15. Zhou X, Baron RM, Hardin M, et al. Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP. Hum Mol Genet 2012; 21: 1325-1335.
16. Howie B, Fuchsberger C, Stephens M, et al. Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet 2012; 44: 955-959.
17. Li Y, Willer CJ, Ding J, et al. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 2010; 34: 816-834.
18. Price AL, Patterson NJ, Plenge RM, et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006; 38: 904-909. (Pubitemid 44141658)
19. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575. (Pubitemid 47330214)
20. Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 2010; 26: 2190-2191.
21. Johnson AD, Handsaker RE, Pulit SL, et al. SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics 2008; 24: 2938-2939.
22. Moffatt MF, Gut IG, Demenais F, et al. A large-scale, consortium-based genomewide association study of asthma. N Engl J Med 2010; 363: 1211-1221.
23. Torgerson DG, Ampleford EJ, Chiu GY, et al. Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. Nat Genet 2011; 43: 887-892.
24. Foreman MG, Campos M, Celedon JC. Genes and chronic obstructive pulmonary disease. Med Clin North Am 2012; 96: 699-711.
25. Kong X, Cho MH, Anderson W, et al. Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema. Am J Respir Crit Care Med 2011; 183: 43-49.
26. Hersh CP, Silverman EK, Gascon J, et al. SOX5 is a candidate gene for chronic obstructive pulmonary disease susceptibility and is necessary for lung development. Am J Respir Crit Care Med 2011; 183: 1482-1489.
27. Contoli M, Baraldo S, Marku B, et al. Fixed airflow obstruction due to asthma or chronic obstructive pulmonary disease: 5-year follow-up. J Allergy Clin Immunol 2010; 125: 830-837.
28. Hurst JR, Vestbo J, Anzueto A, et al. Susceptibility to exacerbation in chronic obstructive pulmonary disease. N Engl J Med 2010; 363: 1128-1138.
29. Izquierdo-Alonso JL, Rodriguez-Gonzalezmoro JM, de Lucas-Ramos P, et al. Prevalence and characteristics of three clinical phenotypes of chronic obstructive pulmonary disease (COPD). Respir Med 2013; 107: 724-731.
30. Chapman KR, Tashkin DP, Pye DJ. Gender bias in the diagnosis of COPD. Chest 2001; 119: 1691-1695. (Pubitemid 32744923)
31. Dransfield MT, Davis JJ, Gerald LB, et al. Racial and gender differences in susceptibility to tobacco smoke among patients with chronic obstructive pulmonary disease. Respir Med 2006; 100: 1110-1116.
32. Chatila WM, Hoffman EA, Gaughan J, et al. Advanced emphysema in African-American and white patients: do differences exist? Chest 2006; 130: 108-118. (Pubitemid 44116848)
33. Broekema M, ten Hacken NH, Volbeda F, et al. Airway epithelial changes in smokers but not in ex-smokers with asthma. Am J Respir Crit Care Med 2009; 180: 1170-1178.
34. Fabbri LM, Romagnoli M, Corbetta L, et al. Differences in airway inflammation in patients with fixed airflow obstruction due to asthma or chronic obstructive pulmonary disease. Am J Respir Crit Care Med 2003; 167: 418-424. (Pubitemid 36216426)
35. Postma DS, Boezen HM. Rationale for the Dutch hypothesis. Allergy and airway hyperresponsiveness as genetic factors and their interaction with environment in the development of asthma and COPD. Chest 2004; 126: Suppl. 2, 96S-104S. (Pubitemid 39093398)
36. Mogi C, Tobo M, Tomura H, et al. Involvement of proton-sensing TDAG8 in extracellular acidification-induced inhibition of proinflammatory cytokine production in peritoneal macrophages. J Immunol 2009; 182: 3243-3251.
37. Kottyan LC, Collier AR, Cao KH, et al. Eosinophil viability is increased by acidic pH in a cAMP- and GPR65- dependent manner. Blood 2009; 114: 2774-2782.