Research conducted by an international consortium of 96 scientists from 63 centers in Europe and Australia discovered five genetic variants that are associated with the health of the human lung. The findings, appearing in Nature Genetics, shed new light on the molecular basis of lung diseases such as COPD and asthma. The researchers hope that drugs could target the newly discovered molecular pathways in the future.
"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," said the researchers.
The researchers 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. Genetic variants resulted in alterations in lung function in five different locations in the human genome. The findings were confirmed by checking the effects of the same variants in over 33,000 additional individuals. The researchers also compared their results to those of a second consortium, CHARGE, which has published a paper in the same issue of the journal.