@article {469826, title = {MUC5B promoter polymorphism and interstitial lung abnormalities}, journal = {N Engl J Med}, volume = {368}, number = {23}, year = {2013}, month = {2013 Jun 06}, pages = {2192-200}, abstract = {BACKGROUND: A common promoter polymorphism (rs35705950) in MUC5B, the gene encoding mucin 5B, is associated with idiopathic pulmonary fibrosis. It is not known whether this polymorphism is associated with interstitial lung disease in the general population. METHODS: We performed a blinded assessment of interstitial lung abnormalities detected in 2633 participants in the Framingham Heart Study by means of volumetric chest computed tomography (CT). We evaluated the relationship between the abnormalities and the genotype at the rs35705950 locus. RESULTS: Of the 2633 chest CT scans that were evaluated, interstitial lung abnormalities were present in 177 (7\%). Participants with such abnormalities were more likely to have shortness of breath and chronic cough and reduced measures of total lung and diffusion capacity, as compared with participants without such abnormalities. After adjustment for covariates, for each copy of the minor rs35705950 allele, the odds of interstitial lung abnormalities were 2.8 times greater (95\% confidence interval [CI], 2.0 to 3.9; P, keywords = {Aged, Female, Genotype, Humans, Longitudinal Studies, Lung, Lung Diseases, Interstitial, Male, Middle Aged, Mucin-5B, Polymorphism, Genetic, Respiratory Function Tests, Smoking, Tomography, X-Ray Computed, Total Lung Capacity}, issn = {1533-4406}, doi = {10.1056/NEJMoa1216076}, author = {Hunninghake, Gary M and Hatabu, Hiroto and Okajima, Yuka and Gao, Wei and Dupuis, Jos{\'e}e and Latourelle, Jeanne C and Nishino, Mizuki and Araki, Tetsuro and Zazueta, Oscar E and Kurugol, Sila and Ross, James C and San Jos{\'e} Est{\'e}par, Ra{\'u}l and Murphy, Elissa and Steele, Mark P and Loyd, James E and Schwarz, Marvin I and Fingerlin, Tasha E and Rosas, Ivan O and Washko, George R and O{\textquoteright}Connor, George T and Schwartz, David A} }