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Genetic factors are linked to symptoms in patients with chronic obstructive pulmonary disease

Research Activities, September 2009

Chronic obstructive pulmonary disease (COPD) is the fourth leading cause of mortality in the United States. While smoking is a major cause of COPD, researchers have discovered genetic determinants that may raise people's risk for the disease. In a new study by researchers at Tufts Medical Center and Brigham and Women's Hospital in Boston, these genetic traits were associated with specific symptoms of COPD. Patients with severe COPD provided blood samples for genetic analysis.

The researchers looked for five genes already associated with susceptibility to COPD. They wanted to see if any links could be established between the various genes and COPD characteristics, such as hypoxemia (low oxygen in the blood), pulmonary artery hypertension, and the need for supplemental oxygen. Genetic variations in two genes were found to be associated with hypoxemia in two separate populations. Another gene variant was linked to pulmonary artery hypertension. The requirement for supplemental oxygen was associated with two other gene variants. Some genetic studies have examined COPD-associated traits such as reduced exercise capacity and shortness of breath. However, this is the first study to examine the relationship between genetic variation and hypoxemia in patients with COPD.

The findings provide additional information about the complex network of genes underlying the variety of clinical types of COPD. The study was supported in part by the Agency for Healthcare Research and Quality (T32 HS00060).

See "Genetic associations with hypoxemia and pulmonary arterial pressure in COPD," by Peter J. Castaldi, M.D., Craig P. Hersh, M.D., M.P.H., John J. Reilly, M.D., F.C.C.P., and Edwin K. Silverman, M.D., Ph.D., in the March 2009 Chest 135(3), pp. 737-744.

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Page last reviewed September 2009
Internet Citation: Genetic factors are linked to symptoms in patients with chronic obstructive pulmonary disease: Research Activities, September 2009. September 2009. Agency for Healthcare Research and Quality, Rockville, MD.