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Background: Coal workers pneumoconiosis (CWP), resulting from inhalation and accumulation of silica-containing coal mine dust, is characterized by fibrosing nodular lesions that eventually develop into progressive pulmonary fibrosis.The genetic variants have been recognized to be involved in the multifactorial susceptibility to CWP, and MUC5B is one of candidate lung fibrosis-associated genes.In the present study, we investigated possible genetic associations between 3 single nucleotide polymorphisms (SNPs) in MUC5B promoter region and CWP.Methods: We performed an association study analyzing 3 SNPs in MUC5B promoter region in a case-control study which included 686 CWP and 680 controls.Genotyping was carried out by TaqMan method.Results: All genotyped distributions of control subjects were consistent with those expected from the Hardy-Weinberg equilibrium.Only rs2672794 allele and genotype frequencies distributions were significantly different between CWP patients and controls (P =0.017 and 0.046 for allele and genotype,respectively).The MUC5B rs2672794 CC genotype was associated with a significantly increased risk of CWP (adjusted odds ratio (OR) =1.55, 95% confidence interval (Cl) =1.08-2.21), compared with the TT genotype.Moreover, individuals with TC/CC genotype had a obviously increased risk of CWP (adjusted OR =1.24, 95%Cl =1.00-1.54) than those with TT genotype, particularly among subgroups of dust exposure less than 27 years (adjusted OR =1.43, 95%Cl =1.01-2.02) and smokers (adjusted OR =1.44, 95%Cl =1.06-1.96).Conclusions:This is the first report showing an association between the MUC5B rs2672794 polymorphism and CWP, and our results suggest that this polymorphism is involved in the etiology of CWP and susceptibility to the disease.Further studies are warranted to confirm our findings.