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Genetic study gives insight into deadly lung disease
February 13, 2017, 8:02 pm

Chronic obstructive pulmonary disease (COPD), which affects nearly five percent of the global population, is a progressive lung disease that obstructs airflow and induces difficulty in breathing.

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.

Now, a breakthrough advance in genetic research has discovered that genetic variation in the DNA content of cells between individuals could be associated with the risk of developing the deadly lung disease. With over one billion tobacco smokers worldwide at risk, the new findings could help defuse the 'ticking time-bomb' for serious lung disease among them as well as among non-smokers identified with COPD.

Results from the study — the world's biggest 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, a person’s chance of developing COPD.

Led by researchers at the Universities of Leicester and Nottingham, the four-year study involved over 100 scientists and 350,000 people from 13 countries and aimed to discover genetic variation in the DNA content of cells between individuals, which are associated with the risk of developing lung disease.

By comparing 24 million genetic variants — the genetic differences between people — in each participant with measures of lung health, scientists were able to group people based on genetic variants to show their risk of developing COPD.

The researchers 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. At present there are no drug treatments for COPD that alter the course of the disease. But, by helping explain why and how COPD develops the new study could one day help personalize treatments based on an individual's genetic make-up.

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