The literature search identified 1719 publications. Of these, 104 reported one or more genetic associations: these are listed in text S1 in the online supporting information. These publications varied according to their study designs and the populations studied. 47 papers reported association with COPD using case control or family based designs. The remaining literature reported association with lung function traits within populations with specific respiratory diseases (asthma (26) and COPD (17)), or in general population cohorts (14). Nine publications studied other populations which included patients with cystic fibrosis (2), SERPINA1 deficiency (2), cotton and grain workers (2), lung cancer (1), fire fighters (1) and post myocardial infarction (MI) patients (1). Some papers reported more than one endpoint.
