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Gene alterations for cystic fibrosis may also account for chronic sinus problems in some

Gene alterations known to cause the inherited disorder cystic fibrosis (CF), which is characterized by mucous membrane abnormalities in the lungs, appear also to contribute to chronic sinus problems in some people, according to a report in this week's Journal of the American Medical Association. About 14 percent of the general U.S. population suffers from chronic sinusitis, a persistent and often painful inflammation of the mucous membranes in the sinus cavities around the nose and eyes and forehead. The disease occurs frequently in patients with asthma and also in people with allergic rhinitis.

"The study is among the first to investigate the genetic basis of chronic sinusitis, a common and troublesome disorder. It provides new insights into the cause of the disease in some people and points to new strategies for diagnosis and treatment," says Marshall Plaut, M.D., of the National Institute of Allergy and Infectious Diseases (NIAID). "It represents a new and important research direction."

The study was supported by NIAID, the National Institute of Diabetes and Digestive and Kidney Diseases, and the National Center for Research Resources, all components of the National Institutes of Health (NIH). The Cystic Fibrosis Foundation also supported the research.

Because chronic sinusitis occurs commonly in people with CF, a disorder now diagnosed by the presence of alterations in a gene known as CFTR, Garry Cutting, M.D., and his colleagues at the Johns Hopkins University in Baltimore, wanted to know if changes in the CFTR gene might also play a role in sinusitis in people who don't have CF. So they compared the DNA of 147 patients with sinusitis, who came to their ear-nose-and-throat clinic, to that of 123 people without sinusitis. Patients with cystic fibrosis were excluded from the study.

CFTR's usual job is to regulate the flow of salt and water across the cell membrane. People with cystic fibrosis carry two copies of an al
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Contact: Gregory Roa
greg.roa@nih.gov
301-402-1663
NIH/National Institute of Allergy and Infectious Diseases
9-Oct-2000


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