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ATS: Genetic Variant Tied to Interstitial Lung Disease
Association not affected by smoking history, although association heightened with age

WEDNESDAY, May 22 (HealthDay News) -- Copy number variants of the common promoter polymorphism (rs35705950) in the MUC5B gene are associated with increased odds of interstitial lung abnormalities, particularly in older people, according to a study published online May 21 in the New England Journal of Medicine to coincide with presentation at the annual meeting of the American Thoracic Society, held from May 17 to 22 in Philadelphia.

Gary M. Hunninghake, M.D., M.P.H., from Brigham and Women's Hospital in Boston, and colleagues conducted a blinded assessment for interstitial lung abnormalities seen on volumetric chest computed tomography in 2,633 participants from the Framingham Heart Study. Genotyping of the common promoter polymorphism (rs35705950) in the MUC5B gene was performed.

The researchers found that interstitial lung abnormalities were seen in 177 chest scans (7 percent), and these abnormalities were associated with shortness of breath and chronic cough and reduced measures of lung and diffusion capacity when compared to participants without the abnormalities. The odds of interstitial lung abnormalities were 2.8 times higher for each copy of the minor rs35705950 allele. History of smoking did not affect the association, although the association between the MUC5B genotype and interstitial lung abnormalities was greater among those 50 years of age and older.

"The MUC5B promoter polymorphism was found to be associated with interstitial lung disease in the general population," the authors write.

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