Article
Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.
Thorax - 1 Jun 2016
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
Abstract excerpt
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...
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