Genetic Variant Associated with Lung Function and COPD

Genetic variant found to be positively associated with lung function in children with asthma and adult smokers, as well as a reduced risk of COPD in adult smokers.

Online PR News – 12-January-2010 – – Boston, MA – Researchers at Brigham and Women’s Hospital (BWH) have identified a genetic variant that is positively associated with lung function in children with asthma and adult smokers, as well as a reduced risk of chronic obstructive pulmonary disease (COPD) in adult smokers. This research is published online on December 16 in the New England Journal of Medicine.

Factor, such as asthma, that affect the lung function of young children, have effects that persist into adult life. Although it has been hypothesized that influencers of asthma in childhood, including genetics, may affect lung function and COPD in adults, this is unclear. “Previous research has been often limited to single populations and has not been consistently replicated in subsequent studies,” said Juan C. Celedón, MD, of the Channing Laboratory and the Division of Pulmonary/Critical Care Medicine of BWH.

In this study, researchers measured the lung function of more than 8300 participants, including children and adults. After testing for the gene encoding matrix metalloproteinase 12 (MMP12), researchers found that a variant of MMP12 was positively associated with lung function in children with asthma and adult smokers. The researchers also found that this variant is associated with a reduced risk of COPD in adults that had previously or were currently smoking.

“Our results support previous findings for MMP12 in animal models, and suggest that genetic variation in MMP12 play a role in determining the level of lung function in high-risk groups, including children with asthma and adult smokers,” said Dr. Celedón.

The researchers note that further research is needed to fully characterize relevant genetic variants in MMP12, to identify additional genetic variants common to both asthma and COPD, and to assess whether reduction in MMP12 levels is beneficial in asthma and/or COPD.

This research was funded by grants from the National Heart Lung and Blood Institute.

About Brigham and Women's Hospital:-
Brigham and Women's Hospital (BWH) is a 777-bed nonprofit teaching affiliate of Harvard Medical School and a founding member of Partners HealthCare, an integrated health care delivery network. In July of 2008, the hospital opened the Carl J. and Ruth Shapiro Cardiovascular Center, the most advanced center of its kind. BWH is committed to excellence in patient care with expertise in virtually every specialty of medicine and surgery. The BWH medical preeminence dates back to 1832, and today that rich history in clinical care is coupled with its national leadership in quality improvement and patient safety initiatives and its dedication to educating and training the next generation of health care professionals. Through investigation and discovery conducted at its Biomedical Research Institute (BRI), BWH is an international leader in basic, clinical and translational research on human diseases, involving more than 860 physician-investigators and renowned biomedical scientists and faculty supported by more than $416 M in funding. BWH is also home to major landmark epidemiologic population studies, including the Nurses' and Physicians' Health Studies and the Women's Health Initiative. For more information about BWH, please visit