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Cystic fibrosis gene may be linked to sinus infections
By Birgit Hofmann-Reinert

Chronic sinus infection or sinusitis, a persistent form of upper respiratory infections, is one of the most common disorders affecting approximately 14 percent of the US population. Recent findings suggest that some people may be more predisposed to the condition than others because they are carriers of a copy of a mutated gene responsible for cystic fibrosis (CF)—the cystic fibrosis transmembrane regulator (CFTR) gene.

People with a single copy of the mutated CFTR gene—about one in every 30 Americans—do not have cystic fibrosis. Children of cystic fibrosis carriers, however, have a one-in-four chance of inheriting two copies of a mutated CFTR gene, which causes the disease. The clinical symptoms (repeated chest infections and progressive loss of lung function leading to premature death) are the consequence of mutations in the CFTR gene.

Researchers at Johns Hopkins University School of Medicine in Baltimore, Maryland, have now been able to establish a link between the CFTR gene and chronic sinus disease, according to a study published in the October 11 issue of The Journal of the American Medical Association. Based on the observation that almost all cystic fibrosis patients suffer from severe sinus infections, they initiated the sinusitis study and found that 7 percent of 147 sinusitis patients were carriers of a mutated copy of the CFTR gene. In comparison, only 2 percent of a corresponding control group had the mutated gene.

"Knowing which genes are involved tells us how to approach underlying biology and may suggest smarter ways to deal with disease," geneticist Garry R. Cutting says. The findings could have a major impact on the therapy for sinusitis patients: Rather than using drugs to dry the mucous membranes, drugs for cystic fibrosis, which increase the salt and water transport across cells, might prove more effective. However, larger studies are required to obtain conclusive results.

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Wang, X.J. et al. Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population. JAMA 284, 1814-1819 (October 11, 2000).

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