Potential lung disease genes discovered

The findings of a new study involving data from more than 20,000 individuals may lead to the better understanding of lung function and diseases like asthma and chronic obstructive pulmonary disease (COPD), the fourth leading cause of death in the United States.

The research, which pooled data from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium, an ongoing study that combines genome-wide association study (GWAS) results from several population-based studies, provides insight into the mechanisms involved in reaching full lung capacity, and uncovered several DNA sequences linked to impaired pulmonary function.

Impaired lung function is a hallmark of COPD and other lung diseases and is linked to mortality from a wide range of other diseases, including cardiovascular disease and cancer. Knowing some of the genes involved is a first step towards understanding the relationship between lung function and mortality, as well as developing new interventions to manage lung diseases.

Dr Stephanie London, senior investigator at the National Institute of Environmental Health Sciences (NIEHS), which is part of National Institutes of Health (NIH), and a senior author on the paper, said: "We have known for a while that genetic factors put some people at risk for lower lung function — a factor in COPD and a risk for early mortality. But, we did not know which specific genetic regions were involved. These findings point to specific gene regions."

"Leveraging our investment in collecting these samples has led to new findings and will help focus future research efforts," said Dr  James Kiley, director of the Division of Lung Diseases at the National Heart, Lung, and Blood Institute (NHLBI).

Results of the analysis were published online in the December 13, 2009 issue of Nature Genetics.