Gene link to COPD risk reported

It may soon be possible to predict an individual’s genetic risk of developing chronic obstructive pulmonary disease, researchers from two British universities reported last night.

Scientists at the University of Leicester and the University of Nottingham, UK, made the claim after leading the world’s biggest study into an individual’s genetic make-up and the risk of developing lung disease.

Writing in Nature Genetics, they say the breakthrough could help defuse a “ticking timebomb” for serious lung disease.

Working with teams from 14 countries across the world, they compared 24 million genetic variants in individuals to develop a model for more accurately predicting chances of developing the disease.

They found that people 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, it could mean that 72 of 100 smokers in the genetically high-risk group will develop COPD in later life.

The four-year study, which used detailed genetic data provided by UK Biobank and data provided by other countries, involved more than 100 scientists and 350,000 people from 13 countries.

It also uncovered new genetic variants known to be associated with lung health and COPD, which could go some way to explain why and how COPD develops.

There are no drug treatments for COPD that alter the course of the disease, but it is hoped this latest study will pave the way for the development of new treatments.

Professor Martin Tobin from the University of Leicester who co-led the study said: “Our findings point to proteins that will help guide the development of new drugs and to proteins that are targets for drugs already tested for different diseases. This indicates that repurposing drugs already tested for different diseases could be one way to improve treatments for COPD.

“As a result of this work, we can now better predict who will develop COPD – opening up the possibility of using this information in prevention.”

Co-study lead Professor Ian Hall from the University of Nottingham added: “Given how common COPD is, we know surprisingly little about the reasons why one individual develops the condition whilst another does not. The study of genetic variation between individuals provides a powerful way to understand these mechanisms which underlie disease risk, which in turn will provide a stimulus for drug development.”

Dr Louise Wain, associate professor in genetic epidemiology who led the team of analysts at the University of Leicester added: “The research shows the value of the UK Biobank study and of ‘big data’ for making discoveries that will improve health.”

Nature Genetics 6 February 2017

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