A Common MUC5B Promoter Polymorphism and Pulmonary Fibrosis

The mutations that have been implicated in pulmonary fibrosis account for only a small proportion of the population risk.

Using a genomewide linkage scan, we detected linkage between idiopathic interstitial pneumonia and a 3.4-Mb region of chromosome 11p15 in 82 families. We then evaluated genetic variation in this region in gel-forming mucin genes expressed in the lung among 83 subjects with familial interstitial pneumonia, 492 subjects with idiopathic pulmonary fibrosis, and 322 controls. MUC5B expression was assessed in lung tissue.