Genetic polymorphisms of the P2X7 gene associated with susceptibility to and prognosis of pulmonary tuberculosis

In this population-based case control study, we recruited 1601 pulmonary tuberculosis cases and 1526 healthy controls, aiming to investigate the association of genetic polymorphisms of the P2X7 gene with the susceptibility to and prognosis of pulmonary tuberculosis in a Chinese Han population. Five single-nucleotide polymorphisms (SNPs) in the P2X7 gene were genotyped. The odds ratio (OR) or relative risk (RR) together with 95% confidence interval (CI) were used to estimated the effect of genetic polymorphisms on the disease. After correction for multiple comparisons, the SNP rs1718119 remained significant. The allele A of rs1718119 was related to a reduced risk for all active tuberculosis (OR for each additional allele A: 0.81, 95% CI: 0.69-0.94) and sputum smear-positive cases (OR for each additional allele A: 0.78, 95% CI: 0.66-0.93). The effects of these genetic variations were more evident among smokers. Survival analysis showed a weak association between rs7958311 and treatment outcome, where each additional allele A of the SNP rs7958311 contributed to a 59% increase in the probability of a successful treatment outcome (adjusted RR: 1.59, 95% CI: 1.05-2.40, P = 0.028); but it wasn't significant after the Bonferroni correction. We demonstrated that genetic variations of the P2X7 gene might be involved in the risk and prognosis of human tuberculosis.