Association between acute respiratory disease events and the MUC5B promoter polymorphism in smokers

Thorax. 2018 Nov;73(11):1071-1074. doi: 10.1136/thoraxjnl-2017-211208. Epub 2018 Feb 13.


A single-nucleotide polymorphism (rs35705950) in the mucin 5B (MUC5B) gene promoter is associated with pulmonary fibrosis and interstitial features on chest CT but may also have beneficial effects. In non-Hispanic whites in the COPDGene cohort with interstitial features (n=454), the MUC5B promoter polymorphism was associated with a 61% lower odds of a prospectively reported acute respiratory disease event (P=0.001), a longer time-to-first event (HR=0.57; P=0.006) and 40% fewer events (P=0.016). The MUC5B promoter polymorphism may have a beneficial effect on the risk of acute respiratory disease events in smokers with interstitial CT features.

Trial registration: NCT00608764.

Keywords: copd exacerbations; idiopathic pulmonary fibrosis; interstitial fibrosis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Acute Disease
  • DNA / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Mucin-5B / genetics*
  • Mucin-5B / metabolism
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic
  • Respiratory Tract Diseases / etiology
  • Respiratory Tract Diseases / genetics*
  • Respiratory Tract Diseases / metabolism
  • Smokers*
  • Smoking / adverse effects*


  • MUC5B protein, human
  • Mucin-5B
  • DNA

Associated data