P2X7 receptor in spinal tuberculosis: Gene polymorphisms and protein levels in Chinese Han population

Spinal tuberculosis (TB) accounts for 1%-5% of all TB infections. Host genetic variation influences susceptibility to Mycobacterium tuberculosis (MTB). P2X7 receptor (P2X7R) expressed on cells has been identified as a regulatory molecule in cell death/apoptosis, killing of intercellular pathogens, and bone turnover. This study investigated the P2X7 gene polymorphisms and protein levels in spinal TB. P2X7 gene -762C>T and 489C>T polymorphisms were genotyped. The expression of P2X7R in bone or intervertebral disc (ID) tissues was analyzed by Western blot assay. The -762C>T and 489C>T polymorphisms were associated with susceptibility to spinal TB. Having the -762CC genotype and -762C allele increased the risk of developing spinal TB (CC vs. TT: P = 0.031, OR [95%CI] = 1.865 [1.053-3.304]; C vs. T: P = 0.028, OR [95%CI] = 1.355 [1.034-1.775]). The presence of the 489T allele was associated with an increased risk of developing spinal TB (TT vs. CC: P = 0.004, OR [95%CI] = 2.248 [1.283-3.939]; CT vs. CC: P = 0.044, OR [95%CI] = 1.755 [1.011-3.047]; T vs. C: P = 0.004, OR [95%CI] = 1.482 [1.134-1.936]; TT + CT vs. CC: P = 0.010, OR [95%CI] = 1.967 [1.171-3.304]; TT vs. CT + CC: P = 0.037, OR [95%CI] = 1.489 [1.023-2.167]). The expression of P2X7R in TB-induced bone lesions increased significantly among spinal TB patients (t = 0.011). Carrying the P2X7 -762CC genotype and 489T allele is associated with an increased risk of developing spinal TB in a Southern Chinese Han population.