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

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. E...

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Veröffentlicht in:	BMC pulmonary medicine 2016-11, Vol.16 (1), p.146-146, Article 146
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Acetylcholine Aged Association Case-Control Studies CHRNA5 Clinical Medicine COPD DNA sequencing eQTL Female Genetic aspects Genetic Predisposition to Disease Genetic variation genome-wide association Genome-Wide Association Study High-Throughput Nucleotide Sequencing Humans identification Klinisk medicin Linkage Disequilibrium Lung - physiopathology Lung development Lung diseases, Obstructive lung-disease Male Middle Aged Nerve Tissue Proteins - genetics northern sweden Nucleotide sequencing Polymorphism, Single Nucleotide polymorphisms population protein-d Pulmonary Disease, Chronic Obstructive - genetics Pulmonology Quantitative trait loci Receptors Receptors, Nicotinic - genetics respiratory symptoms Respiratory System risk-factors Sequencing Sweden
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Zusammenfassung:	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. 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. In total, 37 genetic variants showed association with COPD (p
ISSN:	1471-2466 1471-2466
DOI:	10.1186/s12890-016-0309-y