Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2014 Aug;44(2):341-50.
doi: 10.1183/09031936.00216013. Epub 2014 May 29.

The clinical and genetic features of COPD-asthma overlap syndrome

Megan Hardin  1 , Michael Cho  2 , Merry-Lynn McDonald  3 , Terri Beaty  4 , Joe Ramsdell  5 , Surya Bhatt  6 , Edwin J R van Beek  7 , Barry J Make  8 , James D Crapo  8 , Edwin K Silverman  2 , Craig P Hersh  2
Affiliations

The clinical and genetic features of COPD-asthma overlap syndrome

Megan Hardin et al. Eur Respir J. 2014 Aug.

Abstract

Individuals with chronic obstructive pulmonary disease (COPD) and asthma are an important but poorly characterised group. The genetic determinants of COPD and asthma overlap have not been studied. The aim of this study was to identify clinical features and genetic risk factors for COPD and asthma overlap. Subjects were current or former smoking non-Hispanic whites or African-Americans with COPD. Overlap subjects reported a history of physician-diagnosed asthma before the age of 40 years. We compared clinical and radiographic features between COPD and overlap subjects. We performed genome-wide association studies (GWAS) in the non-Hispanic whites and African-American populations, and combined these results in a meta-analysis. More females and African-Americans reported a history of asthma. Overlap subjects had more severe and more frequent respiratory exacerbations, less emphysema and greater airway wall thickness compared to subjects with COPD alone. The non-Hispanic white GWAS identified single nucleotide polymorphisms in the genes CSMD1 (rs11779254, p=1.57 × 10(-6)) and SOX5 (rs59569785, p=1.61 × 10(-6)) and the meta-analysis identified single nucleotide polymorphisms in the gene GPR65 (rs6574978, p=1.18 × 10(-7)) associated with COPD and asthma overlap. Overlap subjects have more exacerbations, less emphysema and more airway disease for any degree of lung function impairment compared to COPD alone. We identified novel genetic variants associated with this syndrome. COPD and asthma overlap is an important syndrome and may require distinct clinical management.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Regional association plot from the top meta-analysis results for SNPs in or near GPR65 (A) and CYP11B2 (B).
Figure 1
Figure 1
Regional association plot from the top meta-analysis results for SNPs in or near GPR65 (A) and CYP11B2 (B).
See this image and copyright information in PMC

Comment in

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Soriano JB, Davis KJ, Coleman B, Visick G, Mannino D, Pride NB. The proportional Venn diagram of obstructive lung disease: two approximations from the United States and the United Kingdom. Chest. 2003 Aug;124(2):474–81. - PubMed
    1. de Marco R, Pesce G, Marcon A, Accordini S, Antonicelli L, Bugiani M, 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(5):e62985. - PMC - PubMed
    1. Hardin M, Silverman EK, Barr RG, Hansel NN, Schroeder JD, Make BJ, et al. The clinical features of the overlap between COPD and asthma. Respir Res. 2011;12:127. - PMC - PubMed
    1. Miravitlles M, Soler-Cataluna JJ, Calle M, Molina J, Almagro P, Quintano JA, 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 Mar;22(1):117–21. - PMC - PubMed
    1. O’Donnell DE, Aaron S, Bourbeau J, Hernandez P, Marciniuk DD, Balter M, et al. Canadian Thoracic Society recommendations for management of chronic obstructive pulmonary disease - 2007 update. Can Respir J. 2007 Sep;14( Suppl B):5B–32B. - PMC - PubMed

Publication types

MeSH terms