Genetic variation helps predict survival in some cases of pulmonary fibrosis, study finds

Research into genetic features of pulmonary fibrosis by physicians and scientists at the University of Colorado School of Medicine may lead to improved treatment of this deadly lung disease, according to a paper published online by JAMA.

The study found that a particular genetic variation helps predict survival in some cases of pulmonary fibrosis, a chronic progressive disease with a median survival of three years. As a result of the study, researchers may want to consider including genetic testing in future clinical trials.

The researchers looked at whether the MUC5B promoter polymorphism, which previously was found to be associated with developing the disease, is also associated with survival time for individuals with pulmonary fibrosis. MUC5B is a protein that is a component of the mucous produced by the bronchial tubes. Pulmonary fibrosis is a condition where lung tissue becomes thickened, stiff and scarred.

The investigators found that genetic changes in the MUC5B gene are associated with marked improvement in survival among patients with pulmonary fibrosis. This represents the first genetic test that can be used to prognosticate in pulmonary fibrosis and may prove useful taking care of patients with this disease. Currently in the United States, there are no drugs approved for use in cases of the disease. This paper indicates that future drug trials should consider including this genetic test to determine the benefit of their intervention.

The research was supported by funding from the National Heart, Lung and Blood Institute and the Dorothy P. and Richard P. Simmons Endowed Chair for Pulmonary Research at the University of Pittsburgh School of Medicine. Twenty-two authors shared credit for the paper, including researchers from the University of Chicago, the University of Illinois at Chicago, the University of Pittsburgh, Vanderbilt University and InterMune from Brisbane, Calif.

Anna L. Peljto, DrPH, from the Colorado School of Public Health was the first author and David A. Schwartz, MD, chairman of the School of Medicine's Department of Medicine, was the senior author of the paper. Additional authors from Colorado institutions were Tasha E. Fingerlin, PhD, from the Colorado School of Public Health; Lori J. Silveira, PhD, Max A. Seibold, PhD, Kevin K. Brown, MD, and Janet L. Talbert, MS, from National Jewish Health; and Elissa Murphy, MS and Marvin I. Schwarz, MD, from the University of Colorado School of Medicine.

David Schwartz this month gave the American Thoracic Society's Amberson Lecture, an honor bestowed annually on an individual with a career of major lifetime contributions to clinical or basic pulmonary research and/or clinical practice. The JAMA study was released online to coincide with its presentation at the American Thoracic Society's international conference.