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.

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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
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article

MUC5B Polymorphism in Patients with Idiopathic Pulmonary Fibrosis—Does It Really Matter?

Witold Tomkowski, Adriana Roży, Lilia Jakubowska, Beata Żołnowska et al.
1 citations
International Journal of Molecular Sciences
Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
1.52
article

MUC5B Polymorphism in Patients with Idiopathic Pulmonary Fibrosis—Does It Really Matter?

Witold Tomkowski, Adriana Roży, Lilia Jakubowska, Beata Żołnowska, Piotr Radwan-Röhrenschef, Monika Szturmowicz, Katarzyna Lewandowska, Monika Franczuk, Katarzyna Błasińska, Małgorzata Sobiecka, Urszula Lechowicz, Anna Lewandowska, Maria Falis, Olimpia Witczak-Jankowska, Justyna Gryczka-Wróbel
article en
1 citations

Abstract

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.

International Journal of Molecular SciencesVol. 26(5)
Openalex Percentile: Top 21%
Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
1.52
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