Association study of polymorphisms in interferon-γ receptor genes with the risk of pulmonary tuberculosis
Association study of polymorphisms in interferon-γ receptor genes with the risk of pulmonary tuberculosis
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DOI：
10.3892/mmr.2015.3544
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发表时间：
2015-07-01
影响因子：
3.4
通讯作者：
Shin, Hyoung Doo
中科院分区：
文献类型：
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作者：
Shin, Joong-Gon;Park, Byung Lae;Shin, Hyoung Doo
结核病 (TB) 是一种由分枝杆菌引起的传染病，最常影响肺部。结核分枝杆菌的适应性免疫反应主要由干扰素 (IFN-) 信号通路介导，该信号通路受 IFN-受体 (IFNGR) 调节。 IFN-激活许多对免疫反应很重要的基因的转录，因此IFNGR的适当功能似乎对于宿主防御分枝杆菌很重要。在本研究中，对 673 名患者和 592 名正常对照中 IFNGR1 和 IFNGR2 的 22 个基因变异进行了基因分型，以研究 IFNGR1 和 IFNGR2 多态性与结核病风险之间的关联。统计分析显示，IFNGR1 中的 4 个基因变异（rs9376269、rs9376268、rs9376267 和 rs56251346）与结核病风险略有相关（P=0.02-0.04），而 IFNGR1 和 IFNGR2 中的其他单核苷酸多态性则没有表现出任何关联。然而，经过对数据的多重检验校正后，rs9376269、rs9376268、rs9376267和rs56251346这四个遗传变异的显着性被消除(P>0.05)。目前的结果表明，IFNGR 基因中的某些遗传变异可能与结核病的发展有关，这可能为未来的研究提供有用的初步数据。
Tuberculosis (TB) is an infectious disease caused by mycobacterium, which most commonly affects the lungs. The adaptive immune response in Mycobacterium tuberculosis is predominantly mediated by the interferon- (IFN-) signaling pathway, which is regulated by IFN- receptors (IFNGR). IFN- activates the transcription of a number of genes that are important in immune responses, thus the appropriate function of IFNGR appears to be important in host defense against mycobacteria. In the present study, 22 genetic variants in IFNGR1 and IFNGR2 were genotyped in 673 patients and 592 normal controls to investigate the association between IFNGR1 and IFNGR2 polymorphisms and the risk of TB. Statistical analyses revealed that four genetic variants in IFNGR1, rs9376269, rs9376268, rs9376267 and rs56251346 were marginally associated with the risk of TB (P=0.02-0.04), while other single nucleotide polymorphisms in IFNGR1 and IFNGR2 did not exhibit any associations. However, the significance of the four genetic variants rs9376269, rs9376268, rs9376267 and rs56251346 was eliminated following a multiple testing correction of the data (P>0.05). The present results revealed that certain genetic variants in IFNGR genes may be associated with TB development, which may be useful preliminary data for future investigation.