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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

Victoria E. Jackson

Ioanna Ntalla

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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