To conduct the analysis published in Nature Genetics, the researchers used data from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. CHARGE is an ongoing study that combines genome-wide association study (GWAS) results from several population-based studies. Pooling data from many studies gives much greater power to find the specific genes involved than looking at any one study alone, the NIH reports. The individual studies included three U.S.-based population studies supported by the NHLBI: the Artherosclerosis Risk in Communities; the Cardiovascular Health Study; and the Framingham Heart Study; and the Rotterdam Study in the Netherlands.  

 

According to London, her team focused on finding genetic commonalities in DNA that lead to some people having lower lung function than others of the same age, gender, race, size and smoking history.

 

"This is a beautiful example of how modern genomic approaches can unearth valuable new insights from previous research," says Dr. Linda Birnbaum, director of the NIEHS. "It sets us on a course for learning much more about how lung diseases develop and how environmental triggers like smoking and air pollution work in combination with genes."  

 

Another researcher involved with the consortium recently received follow-up funding from the NHLBI to do deep sequencing around the kinds of "top hits" like London and her team found. There is no assurance that that sequencing work will involve the pulmonary hits that London and her colleagues found, but she says she has submitted her study for possible inclusion with that sequencing effort.

 

It would be a huge boost to her team's work if it was part of that sequencing effort, London notes, because what often isn't picked up in work like hers are the rare genetic variants that have smaller signal strength and don't show up as well. Because, while the more common genetic variants she has found are important leads, it may turn out the true cause of morbidity and mortality in many cases lies more in how those common variants interact with rare variants, she notes.  

 

Additional research going forward that London plans to pursue includes getting a larger data set to find genetic variants with smaller effects than the ones she and her team identified, and to do more studies on gene-environment interactions with pulmonary function and lung disease.