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Updated: May 11, 2026

Mucin Agarose Gel Electrophoresis: Western Blotting for High-molecular-weight Glycoproteins
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Published on: June 14, 2016

MUC5B promoter polymorphism and interstitial lung abnormalities.

Gary M Hunninghake1, Hiroto Hatabu, Yuka Okajima

  • 1Pulmonary and Critical Care Division, Brigham and Women's Hospital, 75 Francis St., Boston, MA 02115, USA. ghunninghake@partners.org

The New England Journal of Medicine
|May 23, 2013
PubMed
Summary
This summary is machine-generated.

A common MUC5B gene variant (rs35705950) is linked to interstitial lung disease in the general population. This association is stronger in older individuals but not affected by smoking.

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Area of Science:

  • Pulmonary Medicine
  • Genetics
  • Radiology

Background:

  • A common MUC5B promoter polymorphism (rs35705950) is linked to idiopathic pulmonary fibrosis.
  • The association of this polymorphism with interstitial lung disease (ILD) in the general population remains unclear.

Purpose of the Study:

  • To investigate the association between the MUC5B rs35705950 polymorphism and interstitial lung abnormalities in the general population.
  • To determine if factors like age and smoking influence this association.

Main Methods:

  • Volumetric chest computed tomography (CT) was used to assess interstitial lung abnormalities in 2633 Framingham Heart Study participants.
  • Participants' genotypes at the rs35705950 locus were analyzed in relation to CT findings.

Main Results:

  • Interstitial lung abnormalities were detected in 7% of participants and were associated with shortness of breath, chronic cough, and reduced lung function.
  • Each copy of the minor rs35705950 allele increased the odds of interstitial lung abnormalities by 2.8 times and definite pulmonary fibrosis by 6.3 times.
  • The association was stronger in individuals over 50, but not influenced by smoking history.

Conclusions:

  • The MUC5B promoter polymorphism (rs35705950) is associated with interstitial lung disease in the general population.
  • This association is more pronounced in older individuals and independent of smoking status.