Association of IL-6 polymorphisms with chronic obstructive pulmonary disease risk: meta-analysis of genetic association, gene expression and expression quantitative trait locus analysis.

Aim: IL-6 might play an important role in the mechanism of chronic obstructive pulmonary disease (COPD). This study assessed the relationship of rs1800796 and rs1800797 of IL-6 with COPD.

Materials & Methods: We conducted meta-analysis and gene expression analysis using published datasets to examine the associations between IL-6 SNPs and COPD.

Results: rs1800796 was significantly associated with COPD, yielding a pooled odds ratio of 0.52 (95% CI: 0.33-0.84; p = 0.007), and showed cis-expression quantitative trait locus associations (p = 0.02148). Differential gene expression analysis found that IL-6 was upregulated in COPD cases compared with controls. The associations of rs1800797 with COPD were not significant.

Conclusion: The findings showed that rs1800796 was associated with COPD in Europeans and might affect COPD risk through disturbing IL-6 gene expression.