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Gene study helps understand pulmonary fibrosis

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.

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Funding: Funding for the study was provided bythe National Institutes of Health as part of the American Recovery and Reinvestment Act, the Pulmonary Fibrosis Foundation, the Coalition for Pulmonary Fibrosis grants, the Dorothy P. and Richard P. Simmons Endowment for Pulmonary Research, the Balbach Fund, the Spanish National Health Institute and the European Regional Development Funds.



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