A common MUC5B promoter polymorphism and pulmonary fibrosis.

ABSTRACT:

Background

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

Methods

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.

Results

Linkage and fine mapping were used to identify a region of interest on the p-terminus of chromosome 11 that included gel-forming mucin genes. The minor-allele of the single-nucleotide polymorphism (SNP) rs3570

SUBMITTER: Seibold MA 

PROVIDER: S-EPMC3379886 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature