Correlations of mucin 5B gene polymorphisms and expression levels with the risk of onset of coal workers’ pneumoconiosis

This study investigates the correlations of mucin 5B (MUC5B) rs2672794, rs2075854, and rs868903 polymorphisms and MUC5B expression level with the risk of the onset of coal workers' pneumoconiosis (CWP). Overall, 506 Han Chinese men were included in this study. Among them, 143 were healthy individuals, 132 were dust-exposed workers who underwent health monitoring periodically, and 231 were patients with CWP. The participants were categorized into the following groups based on health status: healthy, exposure, CWP stage I, and CWP stage II groups. Genotyping was performed using the MassARRAY platform, and gene expression levels were measured via real-time fluorescence quantitative polymerase chain reaction. Subsequently, the correlations of 3 single-nucleotide polymorphisms (rs2672794, rs2075854, and rs868903) and MUC5B gene expression with the risk of CWP onset were analyzed. Distributions of the rs2672794 (P = .82) and rs2075854 (P = .72) genotypes were not significantly different among the various groups. Frequencies of the CC and CT genotypes of single-nucleotide polymorphism rs868903 and the C allele of MUC5B were higher in patients with CWP than in the healthy group (P = .04). The MUC5B expression level of patients with CWP was significantly lower than those of the exposure and healthy groups (P < .001). Receiver operating characteristic curve analysis revealed that MUC5B in blood cells was a sensitive biomarker for CWP diagnosis. Significant differences were observed in MUC5B gene expression levels among different genotypes of rs868903 (P < .001), with individuals carrying the CC and CT genotypes exhibiting lower MUC5B gene expression levels than those with the TT genotype. The rs868903 polymorphism in the MUC5B gene could be associated with the susceptibility to CWP, and early monitoring would aid in identifying individuals at high risk. MUC5B might serve as a valuable early screening biomarker for CWP.