In a project that will help understand the causes of lung disease, researchers at The University of Western Australia working with 96 scientists from 63 centres in Europe and Australia have identified five common genetic variations which affect lung function.

A large reduction in lung function occurs in chronic obstructive pulmonary disease (COPD), which affects around one in 10 adults above the age of 40 and is thought to be the fourth most common cause of death worldwide.  Smoking is the major risk factor for development of COPD.  Lung function and COPD cluster within families, indicating that variations in genes also predispose individuals to reduced lung function.

In work published this week in Nature Genetics, the scientists of the SpiroMeta consortium compared genetic variants at each of 2.5 million sites across the human genome in more than 20,000 people of European ancestry.  In five different locations in the human genome, genetic variants resulted in alterations in lung function.

The team, which includes UWA's Centre for Genetic Epidemiology and Biostatistics, showed that these were real findings by checking the effects of the same variants in over 33,000 more people.  They also compared their results to those of a second consortium, CHARGE, which has published a paper in the same issue of the journal.

This research highlights genes involved in pathways important in detoxification, inflammation and healing.  The researchers emphasise that although the effect on lung function of each individual genetic variant is modest, the findings may indicate new ways of treating the condition.

Cough, phlegm and shortness of breath are common symptoms of COPD.  The simplest way to diagnose COPD is through spirometry, which is usually available in general practitioners' surgeries.  Although there is no cure for COPD, stopping smoking and treatments can improve symptoms and reduce the impact of COPD on exercise and daily activities.  Drug treatments include bronchodilators and, for exacerbations, may include short-term steroids.  Patients with COPD are more susceptible to serious lung infections, so flu vaccination each winter is important.

Media references

Winthrop Professor Lyle Palmer, Director, Centre for
Genetic Epidemiology and Biostatistics, UWA  (+61 8)  6488 6729  /  (+61 4) 04 028 535
Janine MacDonald (UWA Public Affairs)  (+61 8)  6488 5563  /  (+61 4) 32 637 716