Association of P2X7 gene polymorphisms with susceptibility to pulmonary tuberculosis in Zahedan, Southeast Iran
Association of P2X7 gene polymorphisms with susceptibility to pulmonary tuberculosis in Zahedan, Southeast Iran
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DOI：
10.4238/2013.january.24.8
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发表时间：
2013-01-01
影响因子：
0.4
通讯作者：
Eskandari-Nasab, E.
中科院分区：
文献类型：
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作者：
Bahari, G.;Hashemi, M.;Eskandari-Nasab, E.
结核病的易感性可能受到人类基因变异的影响。P2 X7受体是一种在免疫细胞中表达的ATP门控阳离子通道，它影响单核细胞和巨噬细胞释放促炎细胞因子。在本研究中，我们的目的是评估P2 X7基因rs 2393799（-762T/C）和rs 1718119（Thr 348 Ala）多态性对伊朗人群肺结核（PTB）易感性的影响。该病例对照研究使用150例PTB病例和150例对照进行。P2 X7受体多态性采用四扩增突变系统-聚合酶链反应。PTB患者P2 X7基因内rs 2393799变异的基因型和等位基因频率显著高于健康对照组。基因型为CC型71例，CT型54例，TT型25例。其中CC基因型104例，CT基因型40例，TT基因型6例。结果表明P2 X7基因rs 2393799多态性与PTB易感性显著相关（CT vs CC：OR = 6.5，95%CI = 2.5-16.9，P < 0.0001; TT vs CC：OR = 3.3，95%CI = 1.2-8.9，P = 0.018; TC+TT vs CC：OR = 2.56，95%CI = 1.59-4.12，P < 0.0001）。rs 2393799 T等位基因是PTB易感性的危险因素（OR = 2.53，95%CI = 1.73-3.71，P < 0.0001）。结论：P2 X7基因rs 2393799多态性可能与PTB的易感性有关。
Susceptibility to tuberculosis may be influenced by variations in human genes. The P2X7 receptor is an ATP-gated cation channel expressed in immune cells, and it influences the release of proinflammatory cytokines from monocytes and macrophages. In the present study, we aimed to evaluate the impact of P2X7 gene rs2393799 (-762T/C) and rs1718119 (Thr348Ala) polymorphisms on patient susceptibility to pulmonary tuberculosis (PTB) in a sample of the Iranian population. This case-control study was performed using 150 PTB cases and 150 controls. P2X7 receptor polymorphisms were determined using tetra-amplification refractory mutation system-polymerase chain reaction. Genotype and allelic frequencies of the rs2393799 variant within the P2X7 gene were significantly higher in the PTB patients than in the healthy controls. The genotypes were CC in 71, CT in 54, and TT in 25 PTB patients. The genotypes were CC in 104, CT in 40, and TT in 6 healthy controls. The results indicate a significant association between rs2393799 polymorphism of the P2X7 gene and susceptibility to PTB (CT vs CC: OR = 6.5, 95%CI = 2.5-16.9, P < 0.0001; TT vs CC: OR = 3.3, 95%CI = 1.2-8.9, P = 0.018; TC+TT vs CC: OR = 2.56, 95%CI = 1.59-4.12, P < 0.0001). The rs2393799 T allele is a risk factor for predisposition to PTB (OR = 2.53, 95%CI = 1.73-3.71, P < 0.0001). No association between the rs1718119 polymorphism and PTB was found. In conclusion, the rs2393799 polymorphism in the P2X7 gene may contribute to patient susceptibility to PTB in our study population.