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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Bibliographic Details
Published in:BMC pulmonary medicine 2016-11, Vol.16 (1), p.146-146, Article 146
Main Authors: 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: Article
Language:English
Subjects:
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
Medicin och hälsovetenskap
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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Summary: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