[Study on association of interleukin-1 receptor antagonist(RA) gene + 2018 locus mutation with silicosis].

OBJECTIVE: To approach whether + 2018 locus (T-- C) mutation within the interleukin- receptor antagonist (IL-1RA) gene promoter region are associated with susceptibility to silicosis in Southwest Chinese Han population. METHODS: 75 cases of silicosis and 137 silica-exposed workers(being employed) were selected as subjects.5ml peripheral vein blood was drawn from each subject. By real-time quantitative polymerase chain reaction and sequencing techniques, IL-1RA gene mutation of all subjects were analyzed. RESULTS: The frequency of IL-1RA + 2018C among the cases with silicosis was higher than that among the silica-exposed workers (controls) (28.0% versus 15.0% , Fisher' s exact P < 0.01 ). The frequency of allelic C was higher in cases with phase I silicosis than in controls(31.8% versus 15.0%, Fisher's exact P < 0.01 ). The frequency of allelic C was higher in cases with phase I and Ill silicosis than in controls, but which statistic difference being not significant(22.6% versus 15.0%, Fisher's exact P < 0.01). After adjusted for confounding factors, the frequency of IL-1RA + 2018C among silicoses and its subgroups was still higher than among controls, which statistic difference being significant (Fisher' s exact P < 0.01). CONCLUSION: IL-1RA gene polymorphisms played an important role in making the Han population of Southwest China susceptible to silicosis. IL-1RA might be took as a gene to be selected for studying the susceptibility of silicosis.

[On the association of tumor necrosis factor-alpha gene polymorphisms with the susceptibility to silicosis].

OBJECTIVE: To find out whether -308 and -238 locus (G --> A) mutation within the tumor necrosis factor-alpha gene (TNF-alpha) promoter region are associated with susceptibility to silicosis in the Han population of southwest China. METHODS: Governed by the principles of voluntatiness and cooperation, 75 patients with silicosis and 137 control with silica-exposure but without silicosis were recruited, and additionally, 140 elderly patients with silicosis and 135 healthy elderly (retired) controls were recruited in this case-control study. 5 ml peripheral vein blood was drawn from each subject. By means of polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) and sequencing techniques, TNF-alpha gene polymorphisms of all subjects were analyzed. RESULTS: The frequencies of TNF-alpha -308A and -238A in the 75 patients with silicosis were higher than those in the 137 controls (P < 0.01). After being adjusted for confounding factors, the -308A and the -238A were still associated with the presence of silicosis (P < 0.01). But the frequency of TNF-alpha -308A in the 140 elderly patients was significantly lower than that in the controls (P < 0.001). CONCLUSIONS: TNF-alpha gene -308 and -238 locus (G --> A) mutation might be related to the occurrence of silicosis and the severity of pulmonary fibrosis in silicosis among the Han population of southwest China, and TNF2 (-308A) allele might increase the risk of the disease.