Department of Genetics, Bhagwan Mahavir Medical Research Centre, Hyderabad, India.
Dis Markers. 2010;28(1):43-8. doi: 10.3233/DMA-2010-0682.
Pulmonary tuberculosis (PTB) is a leading cause of morbidity and mortality. Macrophages play an important role in the immunopathogenesis of tuberculosis. Extracellular ATP induces macrophage bactericidal activity through activation of the purinergic P2X7 receptor. This case- control study assesses the association of -762 T/C, 1513A/C and 1729T/A P2X7 polymorphisms in patients with PTB and healthy controls to establish association if any with risk of developing the disease.
The genotyping for P2X7 was carried out using PCR and RFLP analysis in 256 individuals, which included 156 active PTB patients and 100 age and sex, matched healthy volunteers with no clinical symptoms or family history of PTB as controls.
A chi square test showed a significant difference between the PTB patient and controls for -762 C allele; p=0.0051 (OR 1.6972, CI 95% 1.1839 to 2.4332) and 1729 T allele was found to be positively associated with the PTB; p < 0.0005 (OR- 2.4623, CI 95% 1.6376 to 3.7022). 1513A/C polymorphism did not show any significant difference between the two groups.
The study revealed a significant association of P2X7-762C allele and P2X7 1729T allele receptor polymorphisms with PTB in Asian Indian population. The use of these alleles as biomarkers for identifying individuals at high risk of developing TB needs to be ascertained.
肺结核（PTB）是发病率和死亡率的主要原因。巨噬细胞在结核病的免疫发病机制中起重要作用。细胞外 ATP 通过激活嘌呤能 P2X7 受体诱导巨噬细胞杀菌活性。本病例对照研究评估了 P2X7-762T/C、1513A/C 和 1729T/A 多态性与 PTB 患者和健康对照者的相关性，以确定其与发病风险的任何关联。
使用 PCR 和 RFLP 分析对 256 个人进行了 P2X7 基因分型，其中包括 156 例活动性 PTB 患者和 100 例年龄和性别匹配的、无 PTB 临床症状或家族史的健康志愿者作为对照。
卡方检验显示，PTB 患者与对照组之间 -762C 等位基因存在显著差异；p=0.0051（OR 1.6972，95%CI 1.1839 至 2.4332），1729T 等位基因与 PTB 呈正相关；p<0.0005（OR-2.4623，95%CI 1.6376 至 3.7022）。1513A/C 多态性在两组之间无显著差异。
该研究揭示了 P2X7-762C 等位基因和 P2X7 1729T 等位基因受体多态性与亚洲印度人群 PTB 之间存在显著关联。需要确定这些等位基因是否可作为识别发生结核病风险较高的个体的生物标志物。
