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Gene Variant May Be Linked to Deadly Lung Fibrosis
Date:4/20/2011

By Jenifer Goodwin
HealthDay Reporter

WEDNESDAY, April 20 (HealthDay News) -- Researchers have identified a genetic variant that's found in at least 59 percent of those who have pulmonary fibrosis, a deadly lung disease that typically kills within a few years of diagnosis.

Those with the gene variant had nearly 7 to 22 times the risk of contracting the lethal disease.

For the study, the researchers did a genome-wide linkage scan of 82 families with pulmonary fibrosis of an unknown cause. This type of scan typically looks at how inheritance patterns of multiple affected families are related to several hundred markers throughout the DNA.

The researchers zeroed in on chromosome 11, where they found a common gene variant.

The researchers then compared the results to the genomes of 83 people with familial pulmonary fibrosis (meaning it runs in their family), 492 people with idiopathic pulmonary fibrosis (the type for which there's no known cause) and 322 people without lung disease.

More genetic mapping showed that about 59 percent of people who have familial pulmonary fibrosis (also known as familial interstitial pneumonia) and 67 percent of those with the idiopathic type had the particular variant, or polymorphism.

Only 18 percent of those who did not have lung disease had that variant.

Pulmonary fibrosis involves rapid and progressive scarring of the lungs, making it increasingly difficult to breathe. It develops mostly in middle-age and older adults, according to the Coalition for Pulmonary Fibrosis. Each year, about 40,000 people in the United States die of the disease.

"This gene variant contributes to the development of disease in 60 percent of patients with pulmonary fibrosis," said the study's senior author, Dr. David Schwartz, chairman of the department of medicine at the University of Colorado and director of the Center for Genes, Environment & Health at National Jewish
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