Public release date: 16-Apr-2013 [ | E-mail | Share ]

Contact: John Easton john.easton@uchospitals.edu 773-795-5225 University of Chicago Medical Center

A new study looking at the genomes of more than 1,500 patients with idiopathic pulmonary fibrosis, a rare and devastating lung disease, found multiple genetic associations with the disease, including one gene variant that was linked to an increase in the risk of death.

The study, released early online in The Lancet Respiratory Medicine, showed that a variant in a gene called TOLLIP was associated with an increased mortality risk. That variant resulted in decreased expression of TOLLIP in the lungs of patients with idiopathic pulmonary fibrosis (IPF).

Because TOLLIP, also known as toll interacting protein, plays a role in regulating immunity to certain stimuli, this novel finding suggests that an abnormal immune response, possibly to infectious agents or even environmental injury, may be central to the disease.

Curiously, the version of TOLLIP that appears to prevent onset of the disease was also the variant that increased the risk of death in patients who did develop IPF.

"Our initial genome-wide study revealed 20 genetic loci that may be associated with this disease," said lead author Imre Noth, MD, professor of medicine and director of the Interstitial Lung Disease Program at the University of Chicago. "A more focused investigation showed that four of these play a crucial role."

The researchers confirmed one previously implicated gene tied to disease onset and, more important, found the new genetic locus that appears to play a role in both onset and mortality.

The results "change our perception of the importance of genetics in IPF," Noth said. "Preliminary work, looking at multiple variants of different genes, may allow us to predict the risk of death in IPF patients, which can vary according to their genetics up to 6.5 fold. This would be a powerful prognostic test."

Idiopathic pulmonary fibrosis affects about 150,000 people in the United States, usually after age 50. It causes progressive scarring of the lungs, which leads to increasing difficulty with breathing. For most patients, this leads to death, usually within three to five years. The only effective therapy is a lung transplant.

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Gene study helps understand pulmonary fibrosis

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