Genetic Markers Discovered for COPD

Chronic obstructive pulmonary disease (COPD) is a type of obstructive lung disease characterized by long-term poor airflow and the main symptoms include shortness of breath and cough with sputum production and typically COPD worsens over time.

Chronic obstructive pulmonary disease is the third leading cause of death in the USA, yet there are no effective medicines that improve mortality from the disease and while smoking remains the single most important risk factor for COPD, genetics also play an important role.

A large team of scientists led by those at Brigham and Women's Hospital conducted a genome-wide association study of risk for chronic obstructive pulmonary disease (COPD) in a large, multi-ancestry cohort including 15,256 cases and 47,936 controls. This type of study allows investigators to look across a comprehensive set of genetic variants in different individuals to see if any variant is associated with disease and the most important findings from this study were replicated in a second cohort.

In addition to identifying 13 new genetic regions associated with COPD, the scientists also discovered four genetic regions that were not previously associated with any lung function trait. Nine of the genetic regions have been identified as playing an important role in lung function. Two have previously shown an association with pulmonary fibrosis; however, the specific forms of these genetic variants that increase risk for COPD decrease risk for pulmonary fibrosis. All analyses accounted for the effects of age, gender, and cigarette smoking on disease risk.

They also identified genetic correlation between COPD and asthma. The findings highlight new loci associated with COPD, demonstrate the importance of specific loci associated with lung function to COPD, and identify potential regions of genetic overlap between COPD and other respiratory diseases. Michael Cho, MD, MPH, one of the senior authors of the study, said, “While it is extremely important that patients not smoke for many health reasons, including the prevention of COPD, we know that smoking cessation may not be enough to stave off the disease.” The study was published on February 6, 2017, in the journal Nature Genetics.