Discovery of genome-wide SNP associations for lung function

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Chronic obstructive pulmonary disease (COPD) is a debilitating and incurable lung disease that affects 900,000 people in the UK with one person dying from COPD every 20 minutes in England. It is well known that smoking can cause lung disease including COPD. However, not all smokers are equally at risk of developing COPD, and not all people who develop COPD are smokers. Genetics also plays a role in lung function and in our risk of developing lung diseases. Identifying which genes affect how well our lungs work tells us more about the biology underlying lung health and can lead to development of new treatments for COPD. By studying large groups of individuals, for whom we had both measurements of lung capacity and measurements of how much they vary from each other genetically (genetic variation), we have so far identified 52 regions of our DNA where genetic variation affects lung health. However, we know that there are more regions to be identified, and we need larger and more sophisticated studies to achieve this. Identification of more regions will tell us more about which biological mechanisms are important in lung disease and reveal more about potential approaches to therapy.The aim of this research project is to discover further regions of the genome associated with lung function using data from more than 600,000 individuals. The approaches used to measure genetic variation have improved rapidly in recent times enabling us to simultaneously analyse more genes and other regions of DNA than in previous studies. Combining this with very large sample sizes will enable us to increase the number of regions identified. Achievement of this aim will tell us more about lung health and disease and could lead to new drugs and treatment which improve the lives of individuals with COPD, or prevent COPD from developing.