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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 D.; Postma, Dirkje S.; Bossé, Yohan; Lundbäck, Bo; Klar, Joakim

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 

Item Metadata

Title
Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease
Creator
Matsson, Hans; Söderhäll, Cilla; Einarsdottir, Elisabet; Lamontagne, Maxime; Gudmundsson, Sanna; Backman, Helena; Lindberg, Anne; Rönmark, Eva; Kere, Juha; Sin, Don D.; Postma, Dirkje S.; Bossé, Yohan; Lundbäck, Bo; Klar, Joakim
Contributor
University of British Columbia. Centre for Heart Lung Innovation; St. Paul's Hospital (Vancouver, B.C.)
Publisher
BioMed Central
Date Issued
2016-11-11
Description
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 
Subject
COPD; Sequencing; eQTL; Association; Lung development; CHRNA5
Genre
Article
Type
Text
Language
eng
Date Available
2017-12-14
Provider
Vancouver : University of British Columbia Library
Rights
Attribution 4.0 International (CC BY 4.0)
DOI
10.14288/1.0362019
URI
http://hdl.handle.net/2429/64018
Affiliation
Other UBC; Non UBC
Citation
BMC Pulmonary Medicine. 2016 Nov 11;16(1):146
Publisher DOI
10.1186/s12890-016-0309-y
Peer Review Status
Reviewed
Scholarly Level
Faculty
Copyright Holder
The Author(s).
Rights URI
http://creativecommons.org/licenses/by/4.0/
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Attribution 4.0 International (CC BY 4.0)