BMC pulmonary medicine · 2025
The distribution and the clinical importance of MUC5B and TERT variants in Turkish patients with idiopathic pulmonary fibrosis.
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Ödemiş Ayşe, Öğüş Aliye Candan, Toylu Aslı, Dirol Hülya, Çilli Aykut, Özbudak Ömer, Altıok Clark Özden, Özdemir Tülay
Аннотация
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.
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.