Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Genetic variation contributes to pulmonary fibrosis risk

16.04.2013
A newly published study of patients with pulmonary fibrosis has discovered multiple genetic variations that should help with future efforts to treat the disease.
Pulmonary fibrosis is a condition where lung tissue becomes thickened, stiff and scarred. Currently in the United States, there are no drugs approved for use in cases of the condition's most common and severe form, which is known as idiopathic pulmonary fibrosis (IPF) because the cause of the disease is not known. In those cases, the median survival time after diagnosis is two to three years and lung transplants are the only intervention known to prolong life.

This new study found evidence that common genetic variation is an important contributor to the risk of developing IPF, accounting for approximately one-third of the risk of developing disease. The study identified seven novel genetic risk loci that include genes involved in host defense, cell-cell adhesion, and DNA repair. These findings suggest that the disease is primarily initiated by defects in the lung's ability to defend against internal and environmental challenges.

This international collaborative research was led by scientists at the University of Colorado.
"The insightful leadership of Tasha Fingerlin, extraordinary contributions of Elissa Murphy, and active participation of many others ensured the success of this research and, in aggregate, we have established the scientific basis for early recognition and have identified novel therapeutic targets for this untreatable disease," says David A. Schwartz, MD, chairman of the Department of Medicine at the University of Colorado School of Medicine and senior author of the study. "These findings will change the way we think about pulmonary fibrosis and should eventually enhance the diagnostic and therapeutic options for our patients."

Fingerlin, PhD, and Murphy, MS, also authors of the study, are researchers at the Colorado School of Public Health and the CU School of Medicine.

The study, published in the April 14 edition of the journal Nature Genetics, is the first study to map out genes associated with IPF risk on a genome-wide scale. Three previously known genetic links were confirmed and seven novel loci were identified by studying the entire genome in this progressive incurable disease.

The work was supported by the National Heart, Lung, and Blood Institute (NHLBI). "In addition to expanding the library of genetic changes that can underlie pulmonary fibrosis, this study's findings demonstrate that both rare and common genetic variants contribute significantly to pulmonary fibrosis risk," says James Kiley, PhD, Director of NHLBI's Division of Lung Diseases. "A key next step for research is figuring out how these genetic variants work with environmental factors in the development of the disease."

Faculty at the University of Colorado School of Medicine work to advance science and improve care. These faculty members include physicians, educators and scientists at University of Colorado Hospital, Children's Hospital Colorado, Denver Health, National Jewish Health, and the Denver Veterans Affairs Medical Center. The school is located on the Anschutz Medical Campus, one of four campuses in the University of Colorado system. To learn more about the medical school's care, education, research and community engagement, please visit its web site. For additional news and information, please visit the University of Colorado Denver newsroom.

Keep up with the medical school and healthcare news on Facebook.

Mark Couch | EurekAlert!
Further information:
http://www.ucdenver.edu

More articles from Life Sciences:

nachricht Colorectal cancer risk factors decrypted
13.07.2018 | Max-Planck-Institut für Stoffwechselforschung

nachricht Algae Have Land Genes
13.07.2018 | Julius-Maximilians-Universität Würzburg

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: First evidence on the source of extragalactic particles

For the first time ever, scientists have determined the cosmic origin of highest-energy neutrinos. A research group led by IceCube scientist Elisa Resconi, spokesperson of the Collaborative Research Center SFB1258 at the Technical University of Munich (TUM), provides an important piece of evidence that the particles detected by the IceCube neutrino telescope at the South Pole originate from a galaxy four billion light-years away from Earth.

To rule out other origins with certainty, the team led by neutrino physicist Elisa Resconi from the Technical University of Munich and multi-wavelength...

Im Focus: Magnetic vortices: Two independent magnetic skyrmion phases discovered in a single material

For the first time a team of researchers have discovered two different phases of magnetic skyrmions in a single material. Physicists of the Technical Universities of Munich and Dresden and the University of Cologne can now better study and understand the properties of these magnetic structures, which are important for both basic research and applications.

Whirlpools are an everyday experience in a bath tub: When the water is drained a circular vortex is formed. Typically, such whirls are rather stable. Similar...

Im Focus: Breaking the bond: To take part or not?

Physicists working with Roland Wester at the University of Innsbruck have investigated if and how chemical reactions can be influenced by targeted vibrational excitation of the reactants. They were able to demonstrate that excitation with a laser beam does not affect the efficiency of a chemical exchange reaction and that the excited molecular group acts only as a spectator in the reaction.

A frequently used reaction in organic chemistry is nucleophilic substitution. It plays, for example, an important role in in the synthesis of new chemical...

Im Focus: New 2D Spectroscopy Methods

Optical spectroscopy allows investigating the energy structure and dynamic properties of complex quantum systems. Researchers from the University of Würzburg present two new approaches of coherent two-dimensional spectroscopy.

"Put an excitation into the system and observe how it evolves." According to physicist Professor Tobias Brixner, this is the credo of optical spectroscopy....

Im Focus: Chemical reactions in the light of ultrashort X-ray pulses from free-electron lasers

Ultra-short, high-intensity X-ray flashes open the door to the foundations of chemical reactions. Free-electron lasers generate these kinds of pulses, but there is a catch: the pulses vary in duration and energy. An international research team has now presented a solution: Using a ring of 16 detectors and a circularly polarized laser beam, they can determine both factors with attosecond accuracy.

Free-electron lasers (FELs) generate extremely short and intense X-ray flashes. Researchers can use these flashes to resolve structures with diameters on the...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Leading experts in Diabetes, Metabolism and Biomedical Engineering discuss Precision Medicine

13.07.2018 | Event News

Conference on Laser Polishing – LaP: Fine Tuning for Surfaces

12.07.2018 | Event News

11th European Wood-based Panel Symposium 2018: Meeting point for the wood-based materials industry

03.07.2018 | Event News

 
Latest News

Leading experts in Diabetes, Metabolism and Biomedical Engineering discuss Precision Medicine

13.07.2018 | Event News

Research finds new molecular structures in boron-based nanoclusters

13.07.2018 | Materials Sciences

Algae Have Land Genes

13.07.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>