Heterozygous Ins/Del genotype of the CASP8 rs3834129 polymorphism significantly decreases the risk of coal workers’ pneumoconiosis in a Chinese Han population: a case-control study

Z.-F. Hou, H. Wang, S.-Q. Ji, D.-M. Kang, H. Zhao, Y. Guo, J.-F. Ma, J.-Z. Wang, X. Ma, Y. Gao

Department of Pulmonary and Critical Care Medicine, Sinopharm Tongmei General Hospital, Shanxi, China. tmzyyhx@163.com

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• Respiratory Medicine

OBJECTIVE: Coal workers’ pneumoconiosis (CWP) is a chronic inflammatory and fibrotic pulmonary disease that involves a complex interaction of multiple environmental and genetic factors. Polymorphism, as a genetic factor, may affect the onset of the disease in susceptible populations. The present study investigated the association between the polymorphisms of six genes and CWP risk in a Chinese Han population.

PATIENTS AND METHODS: Six polymorphisms (CASP8 rs3834129, IL1A rs1800587, IL6 rs1800796, IL4 rs2070874, TNFA rs361525, and NLRP3 rs1539019) were examined in 222 CWP subjects and 247 dust-exposed control subjects.

RESULTS: The CASP8 rs3834129 Ins/Del genotype significantly decreased CWP risk (p=0.040; adjusted odds ratio [OR] = 0.586; 95% confidence interval [CI] 0.367–0.935) compared with the Ins/Ins genotype. Stratification analyses revealed a significant interaction between the heterozygous Ins/Del genotype and age. Compared with the Ins/Ins + Del/Del genotype, this was particularly evident among subjects aged 41–60 (p<0.001; adjusted OR = 0.054; 95% CI 0.007–0.420) and those with an exposure time of 20–29 years (p=0.014; adjusted OR = 0.392; 95% CI 0.183–0.842). This decreased risk was also found in the group with former smokers (p=0.012; adjusted OR = 0.448; 95% CI 0.238–0.844). Findings revealed that the heterozygous Ins/Del genotype of CASP8 rs3834129 was related to a significantly decreased risk of stage I CWP (p=0.045; adjusted OR = 0.592; 95% CI 0.353–0.992), but not stage II or III CWP.

CONCLUSIONS: Our study indicated that the heterozygous Ins/Del genotype of CASP8 rs3834129 significantly decreased CWP risk in a Chinese Han population.

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