Gene Variant Associated With Chronic Obstructive Pulmonary Disease Identified

COPD is the fourth leading cause of death in the United States and one of the most prevalent disabling diseases of adults. According to the researchers, cigarette smoking is the primary risk factor for impaired lung function, yet only 20 percent of smokers develop COPD. This observation, along with family studies of lung function and COPD, suggests that genetic factors influence susceptibility to cigarette smoke.

The researchers performed a genome-wide association study on 7,691 Framingham Heart Study participants to identify a relationship between common genetic variants and measures of lung function. The identified variants on chromosome 4 were then examined and confirmed in an independent set of 835 Family Heart Study participants.

"Several interesting genes are present in the region that we identified, including a gene (HHIP) interacting with a biological pathway involved in lung development, but it is not yet clear which gene in the region explains the association," said lead author Jemma Wilk, D.Sc., an assistant professor of neurology at BUSM.. "Our results identified a region of chromosome 4 that warrants further study to understand the genetic effects influencing lung function," she added.

The Framingham Heart Study, which has been administered by BUSM faculty in cooperation with National Heart, Lung and Blood Institute since 1971, was initiated in 1948 to identify factors contributing to cardiovascular disease, principally heart attack and stroke.

This research was conducted in part using data and resources from the Framingham Heart Study of the National Heart, Lung, and Blood Institute of the National Institutes of Health and Boston University School of Medicine.

These findings will be published in PLoS Genetics on March 20th.