Victoria E. Jackson
Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12
Jackson, Victoria E.; Ntalla, Ioanna; Sayers, Ian; Morris, Richard; Whincup, Peter; Casas, Juan-Pablo; Amuzu, Antoinette; Choi, Minkyoung; Dale, Caroline; Kumari, Meena; Engmann, Jorgen; Kalsheker, Noor; Chappell, Sally; Guetta-Baranes, Tamar; McKeever, Tricia M.; Palmer, Colin N.A.; Tavendale, Roger; Holloway, John W.; Sayer, Avan A.; Dennison, Elaine M.; Cooper, Cyrus; Bafadhel, Mona; Barker, Bethan; Brightling, Chris; Bolton, Charlotte E.; John, Michelle E.; Parker, Stuart G.; Moffat, Miriam F.; Wardlaw, Andrew J.; Connolly, Martin J.; Porteous, David J.; Smith, Blair H.; Padmanabhan, Sandosh; Hocking, Lynne; Stirrups, Kathleen E.; Deloukas, Panos; Strachan, David P.; Hall, Ian P.; Tobin, Martin D.; Wain, Louise V.
Authors
Ioanna Ntalla
Professor IAN SAYERS ian.sayers@nottingham.ac.uk
Professor of Respiratory Molecular Genetics
Richard Morris
Peter Whincup
Juan-Pablo Casas
Antoinette Amuzu
Minkyoung Choi
Caroline Dale
Meena Kumari
Jorgen Engmann
Noor Kalsheker
Sally Chappell
Tamar Guetta-Baranes
TRICIA MCKEEVER tricia.mckeever@nottingham.ac.uk
Professor of Epidemiology and Medical Statistics
Colin N.A. Palmer
Roger Tavendale
John W. Holloway
Avan A. Sayer
Elaine M. Dennison
Cyrus Cooper
Mona Bafadhel
Bethan Barker
Chris Brightling
Charlotte E. Bolton
Michelle E. John
Stuart G. Parker
Miriam F. Moffat
Andrew J. Wardlaw
Martin J. Connolly
David J. Porteous
Blair H. Smith
Sandosh Padmanabhan
Lynne Hocking
Kathleen E. Stirrups
Panos Deloukas
David P. Strachan
Ian P. Hall
Martin D. Tobin
Louise V. Wain
Abstract
Background
Several regions of the genome have shown to be associated with COPD in genome-wide association studies of common variants.
Objective
To determine rare and potentially functional single nucleotide polymorphisms (SNPs) associated with the risk of COPD and severity of airflow limitation.
Methods
3226 current or former smokers of European ancestry with lung function measures indicative of Global Initiative for Chronic Obstructive Lung Disease (GOLD) 2 COPD or worse were genotyped using an exome array. An analysis of risk of COPD was carried out using ever smoking controls (n=4784). Associations with %predicted FEV1 were tested in cases. We followed-up signals of interest (p
Citation
Jackson, V. E., Ntalla, I., Sayers, I., Morris, R., Whincup, P., Casas, J., …Wain, L. V. (in press). Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12. Thorax, 71(6), https://doi.org/10.1136/thoraxjnl-2015-207876
Journal Article Type | Article |
---|---|
Acceptance Date | Jan 5, 2016 |
Online Publication Date | Feb 1, 2016 |
Deposit Date | Apr 5, 2016 |
Publicly Available Date | Mar 28, 2024 |
Journal | Thorax |
Print ISSN | 0040-6376 |
Electronic ISSN | 1468-3296 |
Publisher | BMJ Publishing Group |
Peer Reviewed | Peer Reviewed |
Volume | 71 |
Issue | 6 |
DOI | https://doi.org/10.1136/thoraxjnl-2015-207876 |
Keywords | COPD, Airflow limitation, Low frequency exonic variants |
Public URL | https://nottingham-repository.worktribe.com/output/978344 |
Publisher URL | http://thorax.bmj.com/content/71/6/501 |
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Copyright Statement
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Copyright Statement
Copyright information regarding this work can be found at the following address: http://creativecommons.org/licenses/by/4.0
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