Aim: Many case-control studies have been performed in the past to elucidate the association between the P2X7 receptor 1513 A>C (rs3751143) polymorphism and tuberculosis (TB) risk. However, their data interpretation was difficult due to scattered and inconsistent results that led to limited power. In this study, a quantitative summary assessment has been done through meta-analysis to appraise the association between the 1513 A>C polymorphism and TB susceptibility.
Methodology: Systematic assessment was performed for the published studies related with the association between the P2X7 1513 A>C polymorphism and TB risk retrieved from PubMed (Medline), EMBASE search. A meta-analysis was done using a statistical program to evaluate the said association. Pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated for allele contrast, homozygous, heterozygous, dominant, and recessive genetic models.
Results: A total of 2710 controls and 2521 TB cases were included in this meta-analysis. Meta-analysis results showed that C allele carrier status was significantly associated with increased TB risk (C vs. A: p=0.001; OR=1.382, 95% CI=1.248-1.531). Significant risk of TB was associated with the homozygous mutant CC (CC vs. AA: p=0.001; OR=1.676, 95% CI=1.251-2.247) and heterozygous AC (AC vs. AA: p=0.001; OR=1.429, 95% CI=1.260-1.621) comparisons. Similarly, dominant (CC vs. AA+AC: p=0.008; OR=1.481, 95% CI=1.109-1.978) and recessive (CC+AC vs. AA: p=0.001; OR=1.458, 95% CI=1.292-1.645) genetic models also revealed increased risk of developing TB.
Conclusion: We found that the P2X7 1513 A>C gene polymorphism is significantly associated with increased susceptibility to TB. Also, future well-designed epidemiological studies with stratified case-control and biological characterization may be beneficial to validate these findings.