University of Minnesota Genomics Center (UMGC) researchers collaborated with more than 20 national and international research institutions to identify a number of genetic markers associated with idiopathic interstitial pneumonia (IIP), a serious and often fatal lung disease with a poorly understood cause. Although there are several variants of IIP, the preponderance of patients in the current study suffered from interstitial pulmonary fibrosis (IPF), the most common and severe IIP.
These genetic locations (loci) led to the identification of neighboring genes proposed to be involved in the cause and/or progression of the disease. Researchers believe these discoveries will move them closer to more effective treatments.
These findings were recently published in Nature Genetics.
In the laboratory of lead author, David A. Schwartz, M.D., from the University of Colorado-Denver School of Medicine, researchers were able to localize regions of the genome that were more frequently found in individuals with the disease.
The UMGC was called upon by Schwartz for a very specific skill set.
“The UMGC provided high-throughput replication genotyping of the genetic hits identified in their genome-wide association study,” said Kenneth Beckman, Ph.D., director of the University of Minnesota Genomics Center. “The UMGC specializes in very high-throughput population genotyping, and helped to get the work done quickly.”
There are very few drugs that effectively slow down IPF which has a median survival time of 3-5 years after diagnosis. By illuminating the genes and gene products that are likely to be involved in IPF, this study will be a boon to pulmonologists and pharmacologists.
Craig Henke, M.D., is a professor of medicine in the Pulmonary and Critical Care Division at the University of Minnesota and sees patients with IPF at his clinic. Although Henke was not affiliated with this particular study, he does research on IPF and notes the importance of trying to better understand this deadly disease.
“IPF was once considered an uncommon disease but the prevalence of IPF has been increasing as the population ages, now afflicting an estimated 1 million people worldwide and 200,000 individuals in the U.S.,” said Henke. “Studies that provide insight into the development of this deadly disease may help in the development of new medicines or therapies for IPF.”
“The discoveries highlighted by Dr. Schwartz’s research –in which we were fortunate enough to play a role—represent only the beginning of a period of intense work that lies ahead. Nevertheless, with this study, researchers now have a framework on which to base the work that lies ahead,” concluded Beckman.