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Worlds biggest study of genetics of lung health and disease allows scientists to predict chance of developing COPD

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.

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.

An infographic illustrating the genetic risks of developing COPD. (Click to view full-size)

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.

The breakthrough advance could help defuse a ‘ticking timebomb’ for serious lung disease, with over 1 billion smokers worldwide at risk.

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. Apart from help in developing new drug treatments for COPD, the study is important for understanding whether there may be distinct subtypes of COPD in which patients respond differently to treatment. This means some patients may benefit from particular treatments whereas in others these treatments may be ineffective or harmful (precision medicine).

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.

The study, published by Nature Genetics, was funded by the Medical Research Council (MRC) using detailed genetic data provided by UK Biobank and data provided by other countries, and supported by the Wellcome Trust. Led by the Universities of Leicester and Nottingham, the four-year study involved over 100 scientists and 350,000 people from 13 countries.

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