TY - JOUR T1 - The <em>MUC5B</em> promoter polymorphism is associated with specific interstitial lung abnormality subtypes JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.00537-2017 VL - 50 IS - 3 SP - 1700537 AU - Rachel K. Putman AU - Gunnar Gudmundsson AU - Tetsuro Araki AU - Mizuki Nishino AU - Sigurdur Sigurdsson AU - Elías F. Gudmundsson AU - Gudny Eiríksdottír AU - Thor Aspelund AU - James C. Ross AU - Raúl San José Estépar AU - Ezra R. Miller AU - Yoshitake Yamada AU - Masahiro Yanagawa AU - Noriyuki Tomiyama AU - Lenore J. Launer AU - Tamara B. Harris AU - Souheil El-Chemaly AU - Benjamin A. Raby AU - Michael H. Cho AU - Ivan O. Rosas AU - George R. Washko AU - David A. Schwartz AU - Edwin K. Silverman AU - Vilmundur Gudnason AU - Hiroto Hatabu AU - Gary M. Hunninghake Y1 - 2017/09/01 UR - http://erj.ersjournals.com/content/50/3/1700537.abstract N2 - 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.The MUC5B genotype is associated with specific subtypes of ILA, with varying heterogeneity in underlying populations http://ow.ly/pcmH30dRsZ7 ER -