The Rheumatologist
COVID-19 News
  • Connect with us:
  • Facebook
  • Twitter
  • LinkedIn
  • YouTube
  • Feed
  • Home
  • Conditions
    • Rheumatoid Arthritis
    • SLE (Lupus)
    • Crystal Arthritis
      • Gout Resource Center
    • Spondyloarthritis
    • Osteoarthritis
    • Soft Tissue Pain
    • Scleroderma
    • Vasculitis
    • Systemic Inflammatory Syndromes
    • Guidelines
  • Resource Centers
    • Axial Spondyloarthritis Resource Center
    • Gout Resource Center
    • Psoriatic Arthritis Resource Center
    • Rheumatoid Arthritis Resource Center
    • Systemic Lupus Erythematosus Resource Center
  • Drug Updates
    • Biologics & Biosimilars
    • DMARDs & Immunosuppressives
    • Topical Drugs
    • Analgesics
    • Safety
    • Pharma Co. News
  • Professional Topics
    • Ethics
    • Legal
    • Legislation & Advocacy
    • Career Development
      • Certification
      • Education & Training
    • Awards
    • Profiles
    • President’s Perspective
    • Rheuminations
    • Interprofessional Perspective
  • Practice Management
    • Billing/Coding
    • Quality Assurance/Improvement
    • Workforce
    • Facility
    • Patient Perspective
    • Electronic Health Records
    • Apps
    • Information Technology
    • From the College
    • Multimedia
      • Audio
      • Video
  • Resources
    • Issue Archives
    • ACR Convergence
      • Systemic Lupus Erythematosus Resource Center
      • Rheumatoid Arthritis Resource Center
      • Gout Resource Center
      • Abstracts
      • Meeting Reports
      • ACR Convergence Home
    • American College of Rheumatology
    • ACR ExamRheum
    • Research Reviews
    • ACR Journals
      • Arthritis & Rheumatology
      • Arthritis Care & Research
      • ACR Open Rheumatology
    • Rheumatology Image Library
    • Treatment Guidelines
    • Rheumatology Research Foundation
    • Events
  • About Us
    • Mission/Vision
    • Meet the Authors
    • Meet the Editors
    • Contribute to The Rheumatologist
    • Subscription
    • Contact
  • Advertise
  • Search
You are here: Home / Articles / MUC5B Promoter Variant Associated with RA with Interstitial Lung Disease

MUC5B Promoter Variant Associated with RA with Interstitial Lung Disease

December 10, 2018 • By Lara C. Pullen, PhD

  • Tweet
  • Email
Print-Friendly Version / Save PDF

Many patients with rheumatoid arthritis (RA) experience clinical or subclinical lung involvement and approximately 10% will develop interstitial lung disease (ILD). RA with ILD resembles idiopathic pulmonary fibrosis, which has led scientists to question whether the two conditions have a similar underlying pathophysiology. The pathogenesis of idiopathic pulmonary fibrosis may be the result of abnormalities in surfactant secretion predisposition to cell senescence, as well as interference with ciliary clearance. Past research has found parallels in RA patients who frequently have shortened telomeres and patients with ILD who not only carry risk alleles for telomere shortening, but also have more accelerated telomere shortening.

You Might Also Like
  • What Rheumatologists Need to Know about Diagnosing and Managing Interstitial Lung Disease (ILD)
  • Cyclophosphamide for Connective Tissue Disease-Associated Interstitial Lung Disease
  • CCL2 Cytokine Serves as Biomarker in Interstitial Lung Disease
Also By This Author
  • New Insights into CD8+ T Cells & Lupus

Recently, scientists performed genome-wide association studies to identify common genetic variants that may contribute to the development of idiopathic pulmonary fibrosis. They identified a gain-of-function promoter variant in MUC5B (rs35705950) that accounts for approximately 30–35% of the genetic risk for the development of idiopathic pulmonary fibrosis.

ad goes here:advert-1
ADVERTISEMENT
SCROLL TO CONTINUE

The parallels between idiopathic pulmonary fibrosis and ILD have led Pierre-Antoine Juge, MD, a rheumatologist at Bichat-Claude Bernard Hospital, Paris, and colleagues to question whether this risk factor for idiopathic pulmonary fibrosis may also contribute to the risk of ILD among RA patients. In their latest research, they found the promoter variant in MUC5B (rs35705950) is not only associated with RA with complicating ILD, but is also specifically associated with evidence of unusual interstitial pneumonia on imaging. Their results were published on Oct. 20 in the New England Journal of Medicine.¹

The investigators first used a discovery population to compare patients with RA and ILD to unaffected controls. From this population, they determined the minor allele of the MUC5B promoter variant was associated with disease. They next analyzed a multi-ethnic case series and found the variant was significantly over-represented among patients with RA and ILD relative to unaffected controls. When researchers looked within the RA population, they found an association between the MUC5B promoter variant and an increased risk of ILD. However, they note the variant was not associated with RA diagnosis alone.

ad goes here:advert-2
ADVERTISEMENT
SCROLL TO CONTINUE

The investigators found the effect of the promoter variant in ILD development for RA patients was similar in magnitude and direction to that observed for patients with idiopathic pulmonary fibrosis. Moreover, the relationship between the MUC5B promoter variant and RA with ILD appeared to be specific to the usual interstitial pneumonia (UIP) pattern as seen by high-resolution CT scan. Researchers also found TOLLIP rs5743890 and IVD rs2034650 may contribute to the risk of RA with ILD. All told, their findings suggest that RA with ILD is a complex genetic phenotype.

Pages: 1 2 | Single Page

Filed Under: Conditions, Rheumatoid Arthritis Tagged With: ILD, Interstitial Lung Disease, MUC5B, Rheumatoid Arthritis (RA)

You Might Also Like:
  • What Rheumatologists Need to Know about Diagnosing and Managing Interstitial Lung Disease (ILD)
  • Cyclophosphamide for Connective Tissue Disease-Associated Interstitial Lung Disease
  • CCL2 Cytokine Serves as Biomarker in Interstitial Lung Disease
  • Case Report: Interstitial Lung Disease with Positive ANCA Test

American College of Rheumatology

Visit the official website for the American College of Rheumatology.

Visit the ACR »

ACR Convergence

Don’t miss rheumatology’s premier scientific meeting for anyone involved in research or the delivery of rheumatologic care or services.

Visit the ACR Convergence site »

Simple Tasks

Learn more about the ACR’s public awareness campaign and how you can get involved. Help increase visibility of rheumatic diseases and decrease the number of people left untreated.

Visit the Simple Tasks site »

The Rheumatologist newsmagazine reports on issues and trends in the management and treatment of rheumatic diseases. The Rheumatologist reaches 11,500 rheumatologists, internists, orthopedic surgeons, nurse practitioners, physician assistants, nurses, and other healthcare professionals who practice, research, or teach in the field of rheumatology.

About Us / Contact Us / Advertise / Privacy Policy / Terms of Use

  • Connect with us:
  • Facebook
  • Twitter
  • LinkedIn
  • YouTube
  • Feed

Copyright © 2006–2022 American College of Rheumatology. All rights reserved.

ISSN 1931-3268 (print)
ISSN 1931-3209 (online)