Department of Biotechnology, Punjab University, Chandigarh, India.
Int J Tuberc Lung Dis. 2012 Feb;16(2):224-9. doi: 10.5588/ijtld.11.0076.
Several studies have reported the influence of genetic variations on susceptibility to tuberculosis (TB). Polymorphism in P2X7 gene coding for P2X7 receptor present on macrophages has been linked to TB in different populations.
To assess the role of P2X7 gene -762T/C and -1513A/C polymorphisms in TB susceptibility.
In a case-control study, polymerase chain reaction (PCR) amplification of genomic DNA extracted from peripheral blood samples of cases and controls was followed by restriction fragment length polymorphism or allele-specific PCR.
The 1513C allele was found to be associated with TB susceptibility (P = 0.02, OR for variant C allele 1.33, 95%CI 1.03-1.73). A significant protective association against TB was found for -762T/C polymorphism (P < 0.01, OR for variant C allele 0.72, 95%CI 0.57-0.91). On classifying samples on the basis of sex, only males showed a significant association between P2X7 -1513A/C and P2X7 -762T/C and TB in the present study.
A significant association of 762T/C and 1513A/C polymorphisms with TB in the P2X7 gene was found in our study population. A sex bias, with only males showing a significant association with the disease, is the first report of this kind. Genetic studies for the characterisation of the susceptibility genes can help to gain a better understanding of TB pathogenesis.
多项研究报道了遗传变异对结核病（TB）易感性的影响。在不同人群中，编码巨噬细胞上 P2X7 受体的 P2X7 基因的多态性与 TB 有关。
评估 P2X7 基因-762T/C 和-1513A/C 多态性在 TB 易感性中的作用。
在病例对照研究中，对病例和对照组外周血样本基因组 DNA 进行聚合酶链反应（PCR）扩增，然后进行限制性片段长度多态性或等位基因特异性 PCR。
发现 1513C 等位基因与 TB 易感性相关（P=0.02，变异 C 等位基因的 OR 为 1.33，95%CI 为 1.03-1.73）。-762T/C 多态性与 TB 具有显著的保护相关性（P<0.01，变异 C 等位基因的 OR 为 0.72，95%CI 为 0.57-0.91）。在基于性别的样本分类中，只有男性在本研究中显示 P2X7-1513A/C 和 P2X7-762T/C 与 TB 之间存在显著相关性。
本研究人群中 P2X7 基因的 762T/C 和 1513A/C 多态性与 TB 显著相关。只有男性与该疾病存在显著相关性的性别偏倚是此类研究的首次报道。对易感基因特征的遗传研究有助于更好地理解 TB 的发病机制。
