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Chunk #46 — Online Methods — Clinical relevance – COPD susceptibility and risk of COPD exacerbations in European and Chinese populations

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Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.
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1,817 controls) and Geisinger-Regeneron DiscovEHR Study (DiscovEHR, 1,280 COPD cases and 13,321 controls for single-variant analyses and 1,264 COPD cases and 13,032 controls for risk score analyses), and in UK Biobank (not including UK BiLEVE samples, 984 cases and 26,561 controls in total) and UK BiLEVE (9,563 moderate-severe cases, 27,387 controls). rs7050036, located in chromosome X, and chr12:114743533, with MAF= 0.15%, were not present in most studies and therefore were excluded from these analyses, bringing the 97 signals to 95. Of the 95 signals, 47 signals were previously discovered independently of UK BiLEVE and were tested for association using all available COPD cases and controls (20,086 COPD cases and 215,630 controls). The remaining 48 signals were discovered using UK BiLEVE data and so were tested for association using 10,523 COPD cases and 188,243 controls (UK BiLEVE excluded). The effect on risk of COPD exacerbation was additionally tested in the Lung Health Study (LHS) (100 COPD exacerbation cases and 4,002 COPD controls) as well as subsets of UK Biobank (including UK BiLEVE, 647 cases and 9,900 controls), COPDGene (557 cases and 2,255 controls), ECLIPSE (278 cases and 1,458 controls), NETT/NAS (87 cases and 277 controls), GenKOLS (120 cases and 734 controls),