ORIGINAL RESEARCH article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1544864
This article is part of the Research TopicInsights in Genetics of Common and Rare Diseases 2024View all 18 articles
Association of the MUC5B Promoter Polymorphism with Idiopathic Pulmonary Fibrosis in a Lebanese Cohort
Provisionally accepted
Antoine MOUAWAD1,2*
Eliane CHOUERY3
Alain CHEBLY3
Nabiha Salem3
Sandra Corbani3
Maissa Safieddine4Georges Dabar1*- 1Department of Pulmonology and Critical Care, Hôtel-Dieu de France, Beirut, Lebanon
- 2Saint Joseph University, Beirut, Beirut, Lebanon
- 3Center Jacques Loiselet for Medical Genetics and Genomics (CGGM), Faculty of Medicine, Saint Joseph University of Beirut, Beirut, Lebanon
- 4Hôtel-Dieu de France, Beirut, Lebanon
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Background and objective: Idiopathic Pulmonary Fibrosis (IPF) is an interstitial lung disease that causes irreversible alterations in the architecture of the lung parenchyma, leading to impaired ventilation. Both environmental factors and genetic predisposition play significant roles in the development of IPF. A single nucleotide polymorphism (SNP) (rs35705950) within the promoter of the mucin 5B gene (MUC5B) has been reported to be associated with the disease; however, no data is available from Lebanon or the Middle East. This study aims to identify the frequency of the MUC5B promoter variant among a cohort of Lebanese IPF patients, compare it to the general population and assess its association with the risk of developing the disease.Methods: A total of 55 patients diagnosed with IPF, according to the ATS/ERS criteria, and 94 healthy controls were included in the study. DNA samples were extracted and genotyped for the MUC5B promoter polymorphism by Sanger sequencing. Descriptive statistics were performed on clinical characteristics. Pearson's chi-squared and T-student tests were performed to determine statistical significance. Odds ratios quantified genetic variant associations with IPF.Results: The MUC5B SNP rs35705950 was significantly more frequent in IPF patients compared to the control group, in both heterozygous and homozygous forms.Additionally, a significant association was found between the variant and susceptibility to IPF.Conclusion: This study shows that the MUC5B polymorphism rs35705950 is significantly more frequent in the Lebanese IPF population compared to the control group and is associated with an increased risk of developing IPF.
Keywords: Idiopathic Pulmonary Fibrosis, risk factor, MUC5B, rs35705950, promoter polymorphism, Single nucleotide polymorphism, Lebanon
Received: 13 Dec 2024; Accepted: 09 Jun 2025.
Copyright: © 2025 MOUAWAD, CHOUERY, CHEBLY, Salem, Corbani, Safieddine and Dabar. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Antoine MOUAWAD, Department of Pulmonology and Critical Care, Hôtel-Dieu de France, Beirut, Lebanon
Georges Dabar, Department of Pulmonology and Critical Care, Hôtel-Dieu de France, Beirut, Lebanon
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