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Genomics has significantly improved our understanding of chronic obstructive pulmonary disease (COPD) over the past decade. Genome-wide association studies have identified a number of genetic variants associated with lung function and susceptibility to COPD,1 2 and have helped explain why only some smokers develop COPD and why never-smokers can also be affected by the disease. Once COPD is diagnosed, reducing the burden of respiratory exacerbations is a clinical priority because these events are associated with accelerated lung function decline3 and increased mortality.4 However, not all patients with COPD experience exacerbations.5 6 Therefore, identifying individuals at increased risk of exacerbations may help target management and improve outcomes. Beyond the susceptibility to COPD, genomics may also help inform the morbidity of COPD. A previously reported twin study suggests that more than 60% of the risk of severe COPD exacerbations can be attributed to genetic factors.7 Among those, genetic polymorphisms of the β2 adrenergic receptor have been of particular interest.8 9
Using data from individuals with COPD in the Copenhagen General Population Study (n=5262) and the Copenhagen City Heart Study (n=923), Ingebrigtsen et al tested the association of β2 adrenergic receptor polymorphisms Gly16Arg (rs1042713, c.46G>A) and Gln27Glu (rs1042714, c.79C>G) with incident risk of COPD exacerbations requiring hospitalisation.10 In the Copenhagen General Population Study, compared with 16Gly homozygotes, 16Gly/Arg heterozygotes (HR 1.62, 95% CI 1.30 to 2.03, p=0.00002) and 16Arg homozygotes (HR 1.41, 95% CI …
Contributors MH and WWL contributed to conceptualisation, writing and editing of the manuscript.
Funding This study was funded by NIH, grant number: K24 HL138188.
Competing interests MH has consulted for GSK, Mylan, BI and AZ and has received research support from Novartis and Sunovion.
Patient consent for publication Not required.
Provenance and peer review Commissioned; externally peer reviewed.
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