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Chunk #5 — Results — 95 variants and COPD susceptibility

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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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The disease-relevance of lung function-associated variants has been questioned21. Therefore we tested association with COPD susceptibility for variants representing 95 of the 97 lung function associated signals in up to 20,086 COPD cases and 215,630 controls (data were unavailable for further study for the X-chromosome variant, rs7050036:A>T near AP1S2, and a rare variant, chr12:114743533:C>T) (Supplementary Table 9). These cases and controls comprised the COPD study at deCODE Genetics22, (COPD cases defined using spirometry, population-based controls excluding known cases, up to 1,964 moderate-severe cases, up to 142,262 controls), three lung resection cohorts23–25 (COPD definition based on spirometry, 310 moderate-severe cases, 332 controls), four case-control studies employing post-bronchodilator spirometry8–10,26–29 (5,778 moderate-severe cases, 3,950 controls), two studies within which COPD was determined from electronic medical records30 (eMR, total 1,487 cases, 15,138 controls), additional UK Biobank samples (COPD definition based on spirometry, 984 moderate-severe31 cases and 26,561 controls) and UK BiLEVE (COPD definition based on spirometry, 9,563 moderate-severe cases, 27,387 controls). UK BiLEVE COPD cases and controls were only used for single variant COPD association tests for the subset of 47 variants discovered independently