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.

doi:10.1136/thoraxjnl-2015-207876

All Outputs (6)

FourFold Asthma Study (FAST): a study protocol for a randomised controlled trial evaluating the clinical cost-effectiveness of temporarily quadrupling the dose of inhaled steroid to prevent asthma exacerbations (2016)
Journal Article
Skeggs, A., McKeever, T. M., Duley, L., Mitchell, E., Bradshaw, L., Mortimer, K., …Haydock, R. (2016). FourFold Asthma Study (FAST): a study protocol for a randomised controlled trial evaluating the clinical cost-effectiveness of temporarily quadrupling the dose of inhaled steroid to prevent asthma exacerbations. Trials, 17, https://doi.org/10.1186/s13063-016-1608-6

BACKGROUND: Asthma is one of the commonest chronic diseases in the UK. Acute exacerbations of asthma are unpredictable, disruptive and frightening. They cause considerable morbidity and account for a large component of the health service costs of ast... Read More about FourFold Asthma Study (FAST): a study protocol for a randomised controlled trial evaluating the clinical cost-effectiveness of temporarily quadrupling the dose of inhaled steroid to prevent asthma exacerbations.

Place of death in patients with lung cancer: a retrospective cohort study from 2004-2013 (2016)
Journal Article
O'Dowd, E. L., McKeever, T. M., Baldwin, D. R., & Hubbard, R. B. (2016). Place of death in patients with lung cancer: a retrospective cohort study from 2004-2013. PLoS ONE, 11(8), 1-15. https://doi.org/10.1371/journal.pone.0161399

Introduction: Many patients with cancer die in an acute hospital bed, which has been frequently identified as the least preferred location, with psychological and financial implications. This study looks at place and cause of death in patients with l... Read More about Place of death in patients with lung cancer: a retrospective cohort study from 2004-2013.

The effect of pulmonary rehabilitation on mortality, balance, and risk of fall in stable patients with chronic obstructive pulmonary disease: a systematic review (2016)
Journal Article
Hakamy, A., Bolton, C. E., & McKeever, T. M. (2017). The effect of pulmonary rehabilitation on mortality, balance, and risk of fall in stable patients with chronic obstructive pulmonary disease: a systematic review. Chronic Respiratory Disease, 14(1), https://doi.org/10.1177/1479972316661925

Objectives: To evaluate the impact of pulmonary rehabilitation on survival and fall (including balance) in patients with chronic obstructive pulmonary disease (COPD) at stability.

Design: Systematic Review.

Methods: OVID, MEDLINE, EMBASE, and... Read More about The effect of pulmonary rehabilitation on mortality, balance, and risk of fall in stable patients with chronic obstructive pulmonary disease: a systematic review.

Predicting death from surgery for lung cancer: a comparison of two scoring systems in two European countries (2016)
Journal Article
O'Dowd, E. L., Lüchtenborg, M., Baldwin, D. R., McKeever, T. M., Powell, H. A., Møller, H., …Hubbard, R. B. (2016). Predicting death from surgery for lung cancer: a comparison of two scoring systems in two European countries. Lung Cancer, 95, https://doi.org/10.1016/j.lungcan.2016.03.002

Objectives: Current British guidelines advocate the use of risk prediction scores such as Thoracoscore to estimate mortality prior to radical surgery for non-small cell lung cancer (NSCLC). A recent publication used the National Lung Cancer Audit (NL... Read More about Predicting death from surgery for lung cancer: a comparison of two scoring systems in two European countries.

Traditional and emerging indicators of cardiovascular risk in chronic obstructive pulmonary disease (2016)
Journal Article
John, M., McKeever, T. M., Haddad, M. A., Hall, I. P., Sayers, I., Cockcroft, J. R., & Bolton, C. E. (2016). Traditional and emerging indicators of cardiovascular risk in chronic obstructive pulmonary disease. Chronic Respiratory Disease, 13(3), https://doi.org/10.1177/1479972316636995

With the increased cardiovascular (CV) morbidity and mortality in subjects with chronic obstructive pulmonary disease (COPD), there is a priority to identify those patients at increased risk of cardiovascular disease. Stable patients with COPD (n = 1... Read More about Traditional and emerging indicators of cardiovascular risk in chronic obstructive pulmonary disease.

Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12 (2016)
Journal Article
Jackson, V. E., Ntalla, I., Sayers, I., Morris, R., Whincup, P., Casas, J.-P., Amuzu, A., Choi, M., Dale, C., Kumari, M., Engmann, J., Kalsheker, N., Chappell, S., Guetta-Baranes, T., McKeever, T. M., Palmer, C. N., Tavendale, R., Holloway, J. W., Sayer, A. A., Dennison, E. M., …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

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... Read More about Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.