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Updated: Jun 10, 2025

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
04:44

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

19.8K

FAM13A polymorphism is associated with a usual interstitial pneumonia pattern in patients with systemic

Elana J Bernstein1, Francesco Boin2, Brett Elicker3

  • 1Division of Rheumatology, Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.

Rheumatology (Oxford, England)
|October 17, 2024
PubMed
Abstract

Insights

The FAM13A gene, not MUC5B, is linked to a specific lung scarring pattern in systemic sclerosis. This finding offers new insights into the genetic factors influencing systemic sclerosis-associated interstitial lung disease (SSc-ILD) with a usual interstitial pneumonia (UIP) pattern.

Area of Science:

  • Genetics
  • Pulmonology
  • Rheumatology

Background:

  • The MUC5B promoter polymorphism (rs35705950) is associated with idiopathic pulmonary fibrosis (IPF) and rheumatoid arthritis-related interstitial lung disease (RA-ILD), but not systemic sclerosis-associated interstitial lung disease (SSc-ILD).
  • The usual interstitial pneumonia (UIP) pattern on high-resolution chest computed tomography (HRCT) is a key feature in IPF and some connective tissue diseases.

Purpose of the Study:

  • To investigate the association of the MUC5B promoter polymorphism and other IPF susceptibility loci with the uncommon SSc-UIP endotype.
  • To determine if genetic factors predispose SSc-ILD patients to a UIP pattern.

Main Methods:

  • A cross-sectional study of 489 SSc-ILD patients from four US Scleroderma Programs.
  • Genotyping for MUC5B rs35705950 and 12 additional IPF susceptibility loci.
  • HRCT imaging analysis by a blinded thoracic radiologist to classify patients into UIP and non-UIP groups based on American Thoracic Society criteria.

Main Results:

  • The MUC5B SNP rs35705950 was not associated with a definite UIP pattern in SSc-ILD patients.
  • Patients with two copies of the FAM13A minor allele (rs2609255) showed significantly higher odds of a definite UIP pattern compared to other patterns or alternative diagnoses (OR 3.40-3.65).

Conclusions:

  • A novel association between the FAM13A gene and SSc-UIP was identified.
  • The MUC5B promoter polymorphism is not associated with the definite UIP pattern in SSc-ILD, differentiating it from IPF and RA-ILD.
Keywords:
FAM13AMUC5Binterstitial lung diseasesystemic sclerosisusual interstitial pneumonia

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