Genetic Variant is Risk Factor for Two Different Types of Interstitial Lung Disease

MedicalResearch.com Interview with:

Joyce S. Lee, MD Associate Professor Director, Interstitial Lung Disease Program Department of Medicine Division of Pulmonary Sciences and Critical Care Medicine University of Colorado School of Medicine

Dr. Lee

Joyce S. Lee, MD
Associate Professor
Director, Interstitial Lung Disease Program
Department of Medicine
Division of Pulmonary Sciences and Critical Care Medicine
University of Colorado School of Medicine

MedicalResearch.com: What is the background for this study? What are the main findings? 

Response: Rheumatoid arthritis (RA) is a common inflammatory arthritis that can be complicated by interstitial lung disease (ILD). Patients with RA-ILD share clinical characteristics with another ILD called idiopathic pulmonary fibrosis (IPF).

Given the similar clinical phenotype, our goal was to see if these lung diseases (IPF and RA-ILD) shared a common genetic risk factor. The MUC5B promoter variant is the most common risk factor (genetic and otherwise) for the development of IPF.

Our findings demonstrate the MUC5B promoter variant is also a strong risk factor for the development of RA-ILD among patients with RA.

MedicalResearch.com: What should readers take away from your report?

Response: Our findings suggest that the gain-of-function MUC5B promoter variant is a dominant risk factor for two different types of ILD. This may inform and shape our understanding of these two conditions and potentially allow for early identification of pulmonary fibrosis among those with RA, as well as individuals at risk of IPF. 

MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: We recommend further investigation in to the epidemiologic, genetic and biologic similarities (and differences) between RA-ILD and IPF. Further work should investigate how the genetics and other factors can ultimately impact diagnosis and management of patients with RA-ILD.

MedicalResearch.com: Is there anything else you would like to add?

Response: Our findings add to a growing literature that demonstrate the importance of genetic susceptibility in fibrotic lung disease.  These findings create an opportunity for early diagnosis and early intervention before the lung is irreversibly scarred.  Our disclosures are presented in the NEJM manuscript.

Citation:

MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease

Pierre-Antoine Juge, M.D., Joyce S. Lee, M.D., Esther Ebstein, M.D., Hiroshi Furukawa, M.D., Ph.D., Evgenia Dobrinskikh, Ph.D., Steven Gazal, Ph.D., Caroline Kannengiesser, Pharm.D., Ph.D Sébastien Ottaviani, M.D., Shomi Oka, Ph.D., Shigeto Tohma, M.D.,Naoyuki Tsuchiya, M.D., Ph.D., Jorge Rojas-Serrano, M.D., Ph.D.,  et al.

October 20, 2018
DOI: 10.1056/NEJMoa1801562

Oct 24, 2018 @ 8:34 pm

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