Study of common and rare genetic variants in respiratory health: the UK Biobank Lung Exome Evaluation (UK BiLEVE) consoertium

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Lung function is an important indicator of respiratory health and moratlity. Measures of lung function show irreversible airway ostruction in chronic obstructive pulmonary disease (COPD), a progressive condition affecting 900,000 people in the UK. Smoking is a strong risk factor for COPD but not all smokers are equaly susceptible. Genetic approaches to understanding the mechanisms underlying the maintenance of good lung others, aim to reveal previously unknown molecular targets for drug development and to facilitiate stratified approaches to treatment and care. This project aims to detect rare genetic variants associated with lung function. Once discovered, such variants tend to exert a large effect on disease risk and provide a means to translate findings from genetic studies of lung function to clinical relevant research and development. The proposed study leverages the power of Uk Biobank and respiratory genomics to advance understanding of lung function and COPD. This project will use a customised respiratory exome chip in 50,000 UK Biobank participants, selected according to their smoking history and lung function status at baseline. This project therefore requires teh use of data (spirometry, smoking and other lifestyle factors) and DNA samples.