Scientists have discovered information about lung disease that could help to provide better treatment for asthma sufferers and people living with Chronic Obstructive Pulmonary Disease (COPD).
The molecular basis of lung disease has been difficult to understand in the past but now European and Australian scientists have discovered five genetic variants associated with the lung that could help to shape the future. The genetic variants had previously not been directly linked with lung function so it is a break-through.
The revolutionary research, which was part-funded by The Medical Research Council (MRC) and Asthma UK involved a genetic study of 2.5 million sites across the human genome involving samples from 20,000 people across the world.
The consortium was led by Dr Martin Tobin from the University of Leicester and Professor Ian Hall from The University of Nottingham.
The scientists said: “This work is important because until now we have known very little about the genetic factors that determine an individual’s lung function.
“By identifying the genes important in determining lung function, we can start to unravel the underlying mechanisms which control both lung development and lung damage.
“This will lead to a better understanding of diseases such as chronic obstructive pulmonary disease (COPD) and asthma. Crucially, it could open up new opportunities to manage and treat patients with lung conditions”.
The authors added: “A large reduction in lung function occurs in chronic obstructive pulmonary disease (COPD), which affects around 1 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.
“The scientists of the SpiroMeta consortium compared genetic variants at each of 2.5 million sites across the human genome in over 20,000 individuals of European ancestry with their lung function measures.
“In five different locations in the human genome, genetic variants resulted in alterations in lung function. The scientists showed that these were real findings by checking the effects of the same variants in over 33,000 additional individuals. They also compared their results to those of a second consortium, CHARGE, which has published a paper in the same issue of the journal.
The scientists explained that the findings will help to understand the underlying causes of lung disease, they can not tell who will it will affect in the future.
“The research would not have been possible without the generous support of the participants of the contributing studies from the UK, Europe and Australia, to whom we offer our thanks.”
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