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

IF 2.8 3区医学 Q2 RESPIRATORY SYSTEM

BMC Pulmonary Medicine Pub Date : 2025-09-25 DOI:10.1186/s12890-025-03903-7

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

{"title":"The distribution and the clinical importance of MUC5B and TERT variants in Turkish patients with idiopathic pulmonary fibrosis.","authors":"Ayşe Ödemiş, Aliye Candan Öğüş, Aslı Toylu, Hülya Dirol, Aykut Çilli, Ömer Özbudak, Özden Altıok Clark, Tülay Özdemir","doi":"10.1186/s12890-025-03903-7","DOIUrl":null,"url":null,"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.","PeriodicalId":9148,"journal":{"name":"BMC Pulmonary Medicine","volume":"25 1","pages":"429"},"PeriodicalIF":2.8000,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12465160/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMC Pulmonary Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12890-025-03903-7","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}

引用次数: 0

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.

查看原文本刊更多论文

MUC5B和TERT变异在土耳其特发性肺纤维化患者中的分布及其临床意义

背景：Mucin-5B （MUC5B）和端粒酶逆转录酶（TERT）基因变异在特发性肺纤维化（IPF）发病机制中的作用及其与临床特征的关联尚不确定，并可能表现出种族差异。方法：这项单中心横断面研究旨在调查MUC5B rs35705950和TERT rs2736100变异在土耳其IPF患者中的分布。此外，我们评估了这些遗传变异与临床参数之间的关联，包括性别-年龄-生理（GAP）评分、预测强制肺活量（FVC%）百分比、预测一氧化碳扩散能力（DLCO%）百分比以及高分辨率计算机断层扫描（HRCT）上蜂房现象的存在。结果：TERT rs2736100变异的等位基因频率在IPF患者和健康对照组之间无显著差异（41.7%比43.7%,OR = 0.92, p = 0.73）。相反，IPF患者MUC5B rs35705950变异的等位基因频率明显高于对照组（39.6%对12%，OR = 4.81, p = 0.0001）。携带MUC5B纯合子变异（TT）的IPF患者的平均FVC%值显著高于未携带MUC5B纯合子变异（GG）的IPF患者（分别为82.2%和71.7%,p = 0.004）。此外，携带MUC5B变体（GT + TT）至少一个T等位基因的IPF患者的平均诊断年龄明显高于非携带者（GG）（分别为67.7岁对62.3岁，p = 0.013）。结论：我们的研究结果表明，MUC5B rs35705950变异与土耳其患者IPF易感性增加显著相关。相比之下，TERT rs2736100变异与IPF风险无关。此外，MUC5B rs35705950变异的存在与该患者群体中较晚的疾病发病和相对保存的肺功能相关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

BMC Pulmonary Medicine RESPIRATORY SYSTEM-

CiteScore

4.40

自引率

3.20%

发文量

423

审稿时长

6-12 weeks

期刊介绍： BMC Pulmonary Medicine is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of pulmonary and associated disorders, as well as related molecular genetics, pathophysiology, and epidemiology.