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MUC5B rs35705950 Promoter Variant Is Associated with Usual Interstitial Pneumonia in Patients with Antisynthetase

Daphne Rivero-Gallegos1,2, Mayra Mejía1, Karol J Nava-Quiroz3

  • 1Interstitial Lung Disease and Rheumatology Unit, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Mexico City 14080, Mexico.

Journal of Clinical Medicine
|October 26, 2024
PubMed

Insights

The MUC5B rs35705950 genetic variant increases the risk of usual interstitial pneumonia (UIP) in antisynthetase syndrome-interstitial lung disease (ASSD-ILD). This finding supports a shared genetic basis for fibrotic patterns in various interstitial lung diseases.

Area of Science:

  • Pulmonology
  • Genetics
  • Rheumatology

Background:

  • The MUC5B rs35705950 promoter variant is a key genetic risk factor for idiopathic pulmonary fibrosis (IPF).
  • This variant is linked to usual interstitial pneumonia (UIP) patterns in various interstitial lung diseases (ILDs).
  • Antisynthetase syndrome-ILD (ASSD-ILD) patients can present with UIP, indicating a poorer prognosis.

Purpose of the Study:

  • To investigate the association between the MUC5B rs35705950 promoter variant and UIP in patients with ASSD-ILD.
  • To determine if this genetic variant contributes to the development of fibrotic lung disease in ASSD.

Main Methods:

  • A single-center study involving 60 patients diagnosed with ASSD-ILD.
  • Genotyping for the MUC5B rs35705950 promoter variant.
  • Logistic regression analysis was used to calculate crude (cOR) and adjusted odds ratios (aOR) for UIP, controlling for age, sex, and time to progression.

Main Results:

  • The GT genotype of the MUC5B rs35705950 variant was associated with a significantly increased risk of UIP (cOR 5.0).
  • This association remained significant after adjusting for confounding factors (aOR 5.2).
  • The variant confers up to a 4-fold increased risk of developing UIP in ASSD-ILD patients.

Conclusions:

  • The MUC5B rs35705950 variant plays a role in the development of UIP within the ASSD-ILD population.
  • This finding suggests a common genetic etiology for fibrotic ILDs, including ASSD-ILD with UIP patterns.
  • The study reinforces the importance of genetic factors in the pathogenesis of fibrotic lung diseases.
Keywords:
MUC5Bantisynthetase syndromegenotypeinterstitial lung diseaseusual interstitial pneumonia

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