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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 …
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