The world’s biggest study into an individual’s genetic make-up and the risk of developing lung disease could allow scientists to more accurately ‘predict’ – based on genes and smoking – your chance of developing COPD, a deadly disease which is the third commonest cause of death in the world. In the research team participates a Greek scientist.

Eleftheria Zeggini is a Professor of Statistical Genetics at the Wellcome Trust Sanger Institute.

By comparing 24 million genetic variants – genetic differences between people – in each participant with measures of lung health, the scientists from 14 countries, led by a team from the University of Leicester and University of Nottingham, were able to group people based on genetic variants to show their risk of developing COPD.

They discovered that those in the highest risk group were at 3.7 times the risk of developing COPD than those in the lowest risk group. Because smokers are already at higher risk of developing COPD, this could mean that 72 of 100 smokers in the genetically high-risk group will develop COPD in later life.

Through this study, the researchers almost doubled the number of genetic variants known to be associated with lung health and COPD. These advances could help to explain why and how COPD develops and one day could help personalise treatments based on an individual’s genetic make-up. The breakthrough advance could help defuse a ‘ticking timebomb’ for serious lung disease, with over 1 billion smokers worldwide at risk.

Chronic obstructive pulmonary disease (COPD) is a lung disease which makes it difficult to breathe and is the third commonest cause of death worldwide. In the UK there are around 900,000 people living with COPD, costing the NHS over £800m annually and costing the economy £3.8 billion in lost productivity.

Smoking is a strong risk factor for COPD, but not all people affected by COPD are smokers and not all smokers develop the disease. In large part, this is due to one’s genetic make-up. The new research aimed to discover genetic variation in the DNA content of cells between individuals that is associated with the risk of developing lung disease.

At present there are no drug treatments for COPD that alter the course of the disease. But this study led by the scientists at the University of Leicester and University of Nottingham has identified many new genetic variants which are associated with enhanced or worsened lung function in both smokers and non-smokers. It paves the way for the development of new treatments.