Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease

• Main Authors: Matsson, Hans, Söderhäll, Cilla, Einarsdottir, Elisabet, Lamontagne, Maxime, Gudmundsson, Sanna, Backman, Helena, Lindberg, Anne, Rönmark, Eva, Kere, Juha, Sin, Don, Postma, Dirkje, Yohan Bossé, Lundbäck, Bo, Klar, Joakim
• Format: Article in Journal/Newspaper
• Language: unknown
• Published: Figshare 2016
• Subjects: Medicine; Genetics; FOS Biological sciences; Molecular Biology; 69999 Biological Sciences not elsewhere classified; Cancer; 111714 Mental Health; FOS Health sciences; 110309 Infectious Diseases; 60506 Virology; Northern Sweden
• Online Access: https://dx.doi.org/10.6084/m9.figshare.c.3621659.v1; https://figshare.com/collections/Targeted_high-throughput_sequencing_of_candidate_genes_for_chronic_obstructive_pulmonary_disease/3621659/1

Abstract 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