Skip Navigation
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

National Institute of Environmental Health Sciences

Use this QR code to view the newest version of this document
Use this QR code to view the newest version of this document

Your Environment. Your Health.

Publication Detail

Title: The MUC5B promoter polymorphism is associated with specific interstitial lung abnormality subtypes.

Authors: Putman, Rachel K; Gudmundsson, Gunnar; Araki, Tetsuro; Nishino, Mizuki; Sigurdsson, Sigurdur; Gudmundsson, Elías F; Eiríksdottír, Gudny; Aspelund, Thor; Ross, James C; San José Estépar, Raúl; Miller, Ezra R; Yamada, Yoshitake; Yanagawa, Masahiro; Tomiyama, Noriyuki; Launer, Lenore J; Harris, Tamara B; El-Chemaly, Souheil; Raby, Benjamin A; Cho, Michael H; Rosas, Ivan O; Washko, George R; Schwartz, David A; Silverman, Edwin K; Gudnason, Vilmundur; Hatabu, Hiroto; Hunninghake, Gary M

Published In Eur Respir J, (2017 09)

Abstract: The MUC5B promoter polymorphism (rs35705950) has been associated with interstitial lung abnormalities (ILA) in white participants from the general population; whether these findings are replicated and influenced by the ILA subtype is not known. We evaluated the associations between the MUC5B genotype and ILA in cohorts with extensive imaging characterisation.We performed ILA phenotyping and MUC5B promoter genotyping in 5308 and 9292 participants from the AGES-Reykjavik and COPDGene cohorts, respectively.We found that ILA was present in 7% of participants from the AGES-Reykjavik, 8% of non-Hispanic white participants from COPDGene and 7% of African-American participants from COPDGene. Although the MUC5B genotype was strongly associated (after correction for multiple testing) with ILA (OR 2.1, 95% CI 1.8-2.4, p=1×10-26), there was evidence of significant heterogeneity between cohorts (I2=81%). When narrowed to specific radiologic subtypes, (e.g. subpleural ILA), the MUC5B genotype remained strongly associated (OR 2.6, 95% CI 2.2-3.1, p=1×10-30) with minimal heterogeneity (I2=0%). Although there was no evidence that the MUC5B genotype influenced survival, there was evidence that MUC5B genotype improved risk prediction for possible usual interstitial pneumonia (UIP) or a UIP pattern in non-Hispanic white populations.The MUC5B promoter polymorphism is strongly associated with ILA and specific radiologic subtypes of ILA, with varying degrees of heterogeneity in the underlying populations.

PubMed ID: 28893869 Exiting the NIEHS site

MeSH Terms: Aged; Aged, 80 and over; Female; Genotype; Humans; Iceland; Logistic Models; Longitudinal Studies; Lung Diseases, Interstitial/diagnostic imaging; Lung Diseases, Interstitial/genetics*; Male; Mucin-5B/genetics*; Polymorphism, Genetic*; Promoter Regions, Genetic*; ROC Curve; Tomography, X-Ray Computed

Back
to Top