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. 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.

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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

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