Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Sep 25;25(1):429.
doi: 10.1186/s12890-025-03903-7.

The distribution and the clinical importance of MUC5B and TERT variants in Turkish patients with idiopathic pulmonary fibrosis

Ayşe Ödemiş  1 , Aliye Candan Öğüş  2 , Aslı Toylu  3 , Hülya Dirol  2 , Aykut Çilli  2 , Ömer Özbudak  2 , Özden Altıok Clark  3 , Tülay Özdemir  2
Affiliations

The distribution and the clinical importance of MUC5B and TERT variants in Turkish patients with idiopathic pulmonary fibrosis

Ayşe Ödemiş et al. BMC Pulm Med. .

Abstract

Background: The role of genetic variants in Mucin-5B (MUC5B) and telomerase reverse transcriptase (TERT) in idiopathic pulmonary fibrosis (IPF) pathogenesis, as well as their associations with clinical characteristics, remain uncertain and may exhibit ethnic variations.

Methods: This single-center, cross-sectional study aimed to investigate the distribution of MUC5B rs35705950 and TERT rs2736100 variants among Turkish IPF patients. Additionally, we assessed associations between these genetic variants and clinical parameters including gender-age-physiology (GAP) score, percent predicted forced vital capacity (FVC%), percent predicted diffusing capacity for carbon monoxide (DLCO%), and the presence of honeycombing on high-resolution computed tomography (HRCT).

Results: The allele frequency of the TERT rs2736100 variant showed no significant difference between IPF patients and healthy controls (41.7% vs. 43.7%, OR = 0.92, p = 0.73). Conversely, the allele frequency of the MUC5B rs35705950 variant was significantly higher in IPF patients compared to controls (39.6% vs. 12%, OR = 4.81, p = 0.0001). IPF patients carrying the homozygous MUC5B variant (TT) exhibited significantly higher mean FVC% values than those without the variant (GG) (82.2% vs. 71.7%, respectively; p = 0.004). Furthermore, the mean age at diagnosis was significantly older in IPF patients carrying at least one T allele of the MUC5B variant (GT + TT) compared to non-carriers (GG) (67.7 years vs. 62.3 years, respectively; p = 0.013).

Conclusions: Our findings indicate that the MUC5B rs35705950 variant is significantly associated with increased IPF susceptibility among Turkish patients. In contrast, the TERT rs2736100 variant was not linked to IPF risk. Additionally, the presence of the MUC5B rs35705950 variant correlated with later disease onset and relatively preserved pulmonary function in this patient population.

Keywords: Fibrosis; Genetic; Idiopathic pulmonary fibrosis (IPF); Mucine-5B (MUC5B); Telomerase reverse transcriptase (TERT); Variant.

PubMed Disclaimer

Conflict of interest statement

Declarations. Ethics approval and consent to participate: The study was approved by the Clinical Research Ethics Committee of Akdeniz University Faculty of Medicine on 21 November 2018 (Decision Number: 816). Written informed consent was obtained from all participants prior to their inclusion in the study. The study was conducted in full accordance with the ethical principles outlined in the Declaration of Helsinki. Financial support for the study was provided by the Akdeniz University Scientific Research Projects Coordination Unit (Project Number: TTU-2019-4793). Consent for publication: Not applicable. Competing interests: The authors declare no competing interests. Disclaimer: The views expressed in this article are those of the authors and do not necessarily reflect the official policy or position of Akdeniz University or any affiliated institutions.

Figures

Fig. 1
Fig. 1
Distribution of the MUC5B rs35705950 variant frequency according to TERT rs2736100 risk allele status. The frequency of the MUC5B variant was comparable between carriers (CA + AA) and non-carriers (CC) of the TERT risk allele within both IPF and control groups. However, the frequency of the MUC5B variant was significantly higher in IPF patients compared to controls, regardless of TERT variant status (p = 0.0001 and p = 0.007, respectively) However, the MUC5B rs35705950 variant frequency remained significantly higher in the IPF group compared to the control group, regardless of TERT rs2736100 variant status (41.7% vs. 12%, p = 0.0001 and 35% vs. 12%, p = 0.007, respectively). When the TERT rs2736100 variant distribution was assessed in relation to the presence or absence of the MUC5B rs35705950 variant, no significant differences were observed in either the IPF or control groups (Fig. 2)
Fig. 2
Fig. 2
Distribution of TERT rs2736100 variant frequencies based on the presence or absence of the MUC5B rs35705950 risk allele (GT + TT) in IPF and control groups. No significant differences were observed between the IPF and control groups
See this image and copyright information in PMC

References

    1. Sgalla G, Iovene B, Calvello M, Ori M, Varone F, Richeldi L. Idiopathic pulmonary fibrosis: pathogenesis and management. Respir Res. 2018. 10.1186/s12931-018-0730-2. - PMC - PubMed
    1. Seibold MA, Wise AL, Speer MC, Steele MP, Brown KK, Loyd JE, et al. A common MUC5B promoter polymorphism and pulmonary fibrosis. N Engl J Med. 2011;364(16):1503–12. 10.1056/NEJMoa1013660. - PMC - PubMed
    1. Borie R, Crestani B, Dieude P, Nunes H, Allanore Y, Kannengiesser C, et al. The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population. PLoS One. 2013;8(8):e70621. 10.1371/journal.pone.0070621. - PMC - PubMed
    1. Nakano Y, Yang IV, Walts AD, Watson AM, Helling BA, Fletcher AA, et al. MUC5B promoter variant rs35705950 affects MUC5B expression in the distal airways in idiopathic pulmonary fibrosis. Am J Respir Crit Care Med. 2016;193(4):464–6. 10.1164/rccm.201509-1872LE. - PMC - PubMed
    1. Peljto AL, Zhang Y, Fingerlin TE, Ma SF, Garcia JG, Richards TJ, et al. Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis. JAMA. 2013;309(21):2232–9. 10.1001/jama.2013.5827. - PMC - PubMed

LinkOut - more resources