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Gene Linked to Liver Disease in Cystic Fibrosis
Date:9/8/2009

Screening for the variation could help identify risk factors early on, researchers say

TUESDAY, Sept. 8 (HealthDay News) -- A variant of a particular gene in people with cystic fibrosis greatly increases their chances of developing severe liver disease, new research shows.

Cystic fibrosis is an inherited disorder that can lead to deadly lung infections and digestive problems.

About 3 percent to 5 percent of the 30,000 people in the United States with the condition will also develop a serious form of liver disease, including cirrhosis and portal hypertension, or high blood pressure caused by obstruction in the liver, according to the Cystic Fibrosis Foundation.

Researchers from University of North Carolina at Chapel Hill analyzed nine variants in five genes previously implicated in cystic fibrosis liver disease. The study included 124 patients with cystic fibrosis liver disease and 843 patients without liver disease. A second study looked at a different group of 136 patients with cystic fibrosis liver disease and 1,088 without liver disease.

The researchers found that people who had the "SERPINA1 Z allele," or gene variation, had a five times greater chance of developing liver disease. The other variants did not increase the risk of liver disease.

About 2.2 percent of people with cystic fibrosis carry the SERPINA1 Z allele, according to the study published in the Sept. 9 issue of the Journal of the American Medical Association..

Screening for the gene variation could help identify those at risk of developing the liver disease, the researchers wrote.

"The identification of the SERPINA1 Z allele as the first marker for the development of severe liver disease in CF [cystic fibrosis] illustrates the possibility of identifying CF risk factors early in life, conceptually as a secondary component of neonatal screening after the diagnosis of CF is confirmed," researchers wrote.
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