BACKGROUND: Previous studies have demonstrated the important role of genetic predisposition in coal workers’ pneumoconiosis (CWP) in addition to environmental factors. The pathogenesis of pulmonary fibrosis disease is related to telomere activity. We performed this study to assess the association between genetic variants of telomere-related genes and the risk of CWP.

MATERIAL AND METHODS: We enrolled 652 CWP Chinese Han patients and 648 dust-exposed controls in this case-control design study, genotyping 8 single-nucleotide polymorphisms (SNPs) including TERT (rs2736100), TERC (rs10936599 and rs12696304), and NAF1 (rs7675998, rs3822304, rs12331717, rs936562 and rs4691896) using the Sequenom MassARRAY system.

RESULTS: We identified a significant allele association between NAF1 rs4691896 and CWP by comparing patients with controls (22.0% vs. 13.0%, odds ratio [OR]: 1.89, 95% confidence interval [CI]: 1.54–2.33, Pc=1.14×10⁻⁸). The genotype frequency of rs4691896 differed significantly between the patients and controls (Pc=1.49×10⁻⁸). In addition, rs4691896 was correlated with CWP in an additive genetic model (OR: 1.96, 95% CI: 1.58–2.44, Pc=8.96×10⁻⁹) and a dominant model (OR: 2.15, 95% CI: 1.70–2.73, Pc=2.39×10⁻⁹).

CONCLUSIONS: Our study for the first time demonstrates an association between a telomere-related gene (NAF1) and CWP in a Chinese Han population, and provides valuable insight to further understand the possible pathogenetic mechanism of fibrosis in CWP.

Keywords: Anthracosis, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Asians, Case-Control Studies, Coal Mining, Gene Frequency, Genotype, Odds Ratio, RNA, Ribonucleoproteins, Telomerase