Researchers from The University of Western Australia and Sir Charles Gairdner Hospital in collaboration with the Busselton Health Study are part of an international team that have identified 43 new genes that affect lung function. The breakthrough will lead to a better understanding of how to prevent diseases and problems associated with lung functioning.
Published today in Nature Genetics, the research found the new genes affect lung development and the structure of lung tissue and can contribute to asthma, airway inflammation, and airway narrowing.
A common form of reduced lung function that cannot be reversed is called chronic obstructive pulmonary disease (COPD). COPD can range from mild to severe (sometimes occurring without symptoms) and is the third leading cause of death world-wide.
UWA Clinical Professor Alan James said lung function is affected by early lung development and life events such as exposure to cigarette smoke, poor nutrition and respiratory infections.
"An example of this was seen in the Busselton Health Study where we studied more than 5000 people and showed that asthma and smoking had separate but additive effects on lung function," Professor James said.
"It's likely that in COPD, particularly severe cases, a combination of early development of the lungs and events in life will cause severe lung damage."
The people involved in the Busselton Health Study also had their DNA taken for studies into genetic influences on disease and normal variations such as body weight, height and lung function.
"This DNA and the lung function measurements were analysed and combined with results from over 90,000 other people from the UK, Europe and North America," Professor James said.
"The results have led to a much better understanding of how lung function can be decreased at different times of life and what interventions might be used to target specific proteins for prevention and treatment."
The Busselton Health Study is now being used for numerous national and international studies into genetics because the data is unique, combining measurements of health and risk factors for disease with DNA samples.
The team has taken the research a step further by examining if the 43 new genes discovered affect processes within the body that alter lung function.
"We found that some of these genes influence inflammation (as in asthma and in cigarette smoking and infections), nerve function in smooth muscle (like that around the airways in the lung) and DNA control (as can occur in cigarette smoking)," Professor James said.
"By further examining patients with reduced lung function, we can look at how lung problems may be prevented through lifestyle changes and treated by medications."