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

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

研究成果: Article査読

51 被引用数 (Scopus)


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.

ジャーナルEuropean Respiratory Journal
出版ステータスPublished - 2017 9月 1

ASJC Scopus subject areas

  • 呼吸器内科


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