MUC5B Polymorphism in Patients with Idiopathic Pulmonary Fibrosis—Does It Really Matter?
Idiopathic pulmonary fibrosis (IPF) is a rare disorder concerning elderly people, predominantly men, active or former smokers, with a progressive nature and leading to premature mortality. The cause of the disease is unknown. However, there are some risk factors, among which genetic predisposition plays a role. The aim of our single-centered observational study was to assess the correlation between single nucleotide polymorphism (SNP) of the <i>MUC5B</i> gene (rs35705950) and the disease course, antifibrotic treatment effect, and survival in patients with IPF. A total of 93 patients entered the study, of whom 88 were treated with either nintedanib or pirfenidone. The GG genotype was found in 28 (30.1%) subjects, while the GT or TT genotypes were found in the remaining 65 (63.4%) and 6 (6.5%) patients, respectively. The T allele minor allele frequency (MAF) accounted for 38.2% of the whole group. Patients with different genotypes did not differ significantly regarding age, sex, pulmonary function tests' results, response to the antifibrotic treatment, or survival. However, we found a survival advantage in female patients and patients with higher pre-treatment TL,co. Treatment with antifibrotics significantly decreased the magnitude of FVC and TL,co decline compared to the time before treatment initiation, regardless of <i>MUC5B</i> status. In conclusion, we found high prevalence of T allele of <i>MUC5B</i> gene in patients with IPF; however, it showed no influence on disease trajectory, survival, or antifibrotic treatment effect in the presented cohort.
Authors
- Witold Tomkowski
- Adriana Roży
- Lilia Jakubowska
- Beata Żołnowska
- Piotr Radwan-Röhrenschef
- Monika Szturmowicz (ORCID: https://orcid.org/0000-0002-5625-6051)
- Katarzyna Lewandowska (ORCID: https://orcid.org/0000-0002-4648-2864)
- Monika Franczuk (ORCID: https://orcid.org/0000-0003-4264-4069)
- Katarzyna Błasińska (ORCID: https://orcid.org/0000-0001-9343-2272)
- Małgorzata Sobiecka (ORCID: https://orcid.org/0000-0001-9311-9753)
- Urszula Lechowicz (ORCID: https://orcid.org/0000-0002-2645-8779)
- Anna Lewandowska (ORCID: https://orcid.org/0000-0003-1508-879X)
- Maria Falis (ORCID: https://orcid.org/0000-0002-3892-2591)
- Olimpia Witczak-Jankowska
- Justyna Gryczka-Wróbel
Publication Details
- Journal
- International Journal of Molecular Sciences
- Published
- 2025-02-28
- DOI
- https://doi.org/10.3390/ijms26052218
- Citations
- 1
- Primary Topic
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Type
- article
- Field-Weighted Citation Impact
- 1.52