Exploration of the MUC5B promoter variant and ILD risk in patients with autoimmune myositis

Cheilonda Johnson; Paul Rosen; Thomas Lloyd; Maureen Horton; Lisa Christopher-Stine; Chester V Oddis; Andrew L Mammen; Sonye K Danoff

doi:10.1016/j.rmed.2017.07.010

Exploration of the MUC5B promoter variant and ILD risk in patients with autoimmune myositis

Respir Med. 2017 Sep:130:52-54. doi: 10.1016/j.rmed.2017.07.010. Epub 2017 Jul 17.

Authors

Cheilonda Johnson¹, Paul Rosen², Thomas Lloyd³, Maureen Horton¹, Lisa Christopher-Stine⁴, Chester V Oddis⁵, Andrew L Mammen⁶, Sonye K Danoff⁷

Affiliations

¹ Johns Hopkins University School of Medicine, Division of Pulmonary & Critical Care Medicine, Baltimore, MD, USA.
² Princeton University, Department of Chemistry, Princeton, NJ, USA.
³ Johns Hopkins University School of Medicine, Department of Neurology, Baltimore, MD, USA.
⁴ Johns Hopkins University School of Medicine, Division of Rheumatology, Baltimore, MD, USA.
⁵ University of Pittsburgh School of Medicine, Division of Rheumatology and Clinical Immunology, Pittsburgh, PA, USA.
⁶ Johns Hopkins University School of Medicine, Department of Neurology, Baltimore, MD, USA; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Expression, Bethesda, MD, USA.
⁷ Johns Hopkins University School of Medicine, Division of Pulmonary & Critical Care Medicine, Baltimore, MD, USA. Electronic address: sdanoff@jhmi.edu.

PMID: 29206633
DOI: 10.1016/j.rmed.2017.07.010

Abstract

Interstitial lung disease (ILD) is common in patients with autoimmune myositis but factors that determine susceptibility are unknown. Familial and sporadic idiopathic pulmonary fibrosis (IPF) are strongly associated with a single nucleotide polymorphism in the promoter region of MUC5B (rs35705950). We sought to determine the relationship between MUC5B polymorphism expression and myositis-ILD. The MUC5B minor allele frequency (MAF) was examined in 402 European American participants; 60 with idiopathic interstitial pneumonia (IIP), 208 with myositis-ILD, and 134 unaffected controls. The MUC5B minor allele frequency was 26%, 8%, and 7% in those with non-myositis ILD, myositis-ILD, and unaffected controls, respectively. The MUC5B variant was associated with IIP (OR 4.10; p < 0.001). The MUC5B polymorphism was not significantly associated with myositis-ILD (OR 1.08; p = 0.80)]. We found MUC5B MAFs in our IIP cohort similar to published frequencies for subjects with familial and sporadic IPF. Overall, the MUC5B promoter variant does not appear to contribute to ILD risk in myositis patients.

Keywords: Dermatomyositis; Interstitial lung diseases; Mucin-5B; Polymyositis; Single nucleotide polymorphism.

Publication types

Comparative Study

MeSH terms

Chromosomes, Human, Pair 11
Dermatomyositis / genetics*
Dermatomyositis / immunology
Gene Frequency
Humans
Idiopathic Interstitial Pneumonias / genetics*
Idiopathic Pulmonary Fibrosis / genetics
Lung Diseases, Interstitial / diagnosis
Lung Diseases, Interstitial / genetics*
Mucin-5B / genetics*
Myositis / genetics*
Myositis / immunology
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Risk
White People

Substances

MUC5B protein, human
Mucin-5B