DURHAM, N.C. Scientists at Duke University Medical Center have discovered two genetic markers that appear to put some smokers at significantly higher risk of developing chronic obstructive pulmonary disease (COPD).
The findings come from the first-ever genome-wide association study of COPD and suggest that those who carry the markers may be able to reduce their risk if they quit smoking before the first symptoms of COPD occur.
"The public health message would probably be 'quit before it's too late,'" says David Goldstein, Ph.D., director of the Institute for Genome Sciences Center for Human Genome Variation at Duke and the senior author of the study appearing in PLoS Genetics.
Chronic obstructive pulmonary disease is one of the leading causes of death worldwide. While smoking is the biggest risk factor, there is considerable variation among those who develop the disease. Genetics plays a role, but until now, there has only been one biological marker proven to be associated with COPD a deficit of the protein A1AT, which has also been linked to the development of lung cancer.
"But we know that A1AT deficiency appears in only 1-2 percent of people with COPD, so we were pretty sure that there had to be other genetic variants at work, as well," says Goldstein.
To discover if that hunch might prove true, Goldstein led an international team of investigators in examining the genomes of 823 people with COPD and 810 smokers without COPD in Norway. They were looking for the presence of the 100 top genetic variations already documented in individuals with COPD enrolled in the family-based International COPD Genetics Network. They then took the most frequently occurring alterations from that study and evaluated them in three additional, independent groups: patients in the U.S. National Emphysema Treatment Trial, individuals enrolled in the Boston Early-Onset COPD study and a control group from the Normative Aging S
Duke University Medical Center