UBC Faculty Research and Publications

Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease Matsson, Hans; Söderhäll, Cilla; Einarsdottir, Elisabet; Lamontagne, Maxime; Gudmundsson, Sanna; Backman, Helena; Lindberg, Anne; Rönmark, Eva; Kere, Juha; Sin, Don; Postma, Dirkje S; Bossé, Yohan; Lundbäck, Bo; Klar, Joakim


Background: Reduced lung function in patients with chronic obstructive pulmonary disease (COPD) is likely due to both environmental and genetic factors. We report here a targeted high-throughput DNA sequencing approach to identify new and previously known genetic variants in a set of candidate genes for COPD. Methods: Exons in 22 genes implicated in lung development as well as 61 genes and 10 genomic regions previously associated with COPD were sequenced using individual DNA samples from 68 cases with moderate or severe COPD and 66 controls matched for age, gender and smoking. Cases and controls were selected from the Obstructive Lung Disease in Northern Sweden (OLIN) studies. Results: In total, 37 genetic variants showed association with COPD (p 

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