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

Infect Genet Evol. 2018 Jan:57:138-144. doi: 10.1016/j.meegid.2017.11.020. Epub 2017 Nov 20.

Abstract

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.

Keywords: P2X7 receptor; Polymorphism; Spinal tuberculosis; Susceptibility.

MeSH terms

  • Alleles
  • Asian People*
  • Case-Control Studies
  • China
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genotype
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Male
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Receptors, Purinergic P2X7 / genetics*
  • Receptors, Purinergic P2X7 / metabolism*
  • Tuberculosis, Spinal / genetics*
  • Tuberculosis, Spinal / pathology

Substances

  • Receptors, Purinergic P2X7