中文摘要：

目的 探讨TLR4的基因多态性与中国汉族儿童结核易感性的关系. 方法 收集348名汉族儿童结核病患者,并按照发病部位和严重程度分为肺内结核病、肺外结核病、重症结核病和非重症结核病亚组,以同期查体的389名儿童作为对照,采用病例对照研究,应用高通量MassARRAY技术对于TLR4基因的SNP位点进行基因分型研究. 结果 研究显示结核组和对照组TLR4基因rs1399431位点基因频率存在差异;rs1399431、rs1927907和rs11536889的基因型频率在亚组间的分布差异具有统计学意义.在显性模式下,rs1927907的A等位基因和rs1399431的T等位基因和正常组比较对于肺外结核病（Prs19277907 =0.042和P=1399431 =0.012）具有保护作用;而rs1399431的T等位基因和非重症结核病比较,对于重症TB（Prs1399431=0.012）具有保护作用;在隐性遗传模式下rs11536889的C等位基因和正常组比较对于重症结核病（Prs1399431=0.024）具有易感作用. 结论 结果提示TLR4基因在结核病易感性方面,特别是结核病亚组之间具有一定作用.

英文摘要：

Objective To explore the association between gene polymorphisms of Toll like receptor 4（TLR4）and susceptibility to tuberculosis（TB）in Han Chinese children.Methods A case-control study was performed in 348 TB patients（including pulmonary TB,extrapulmonary TB,severe TB and non-severe TB） and 389 healthy controls,who were of Han ethnicity and aged from 0.2 to 18 years.MassARRAY was then used for SNP genotyping.Results The genotype frequency of rs1399431 in TLR4 gene was significantly different between TB group and control group.The genotype frequencies of rs1399431,rs1927907 and rs11536889 in TLR4 gene were also significantly different among pulmonary TB,extrapulmonary TB,severe TB and non-severe TB.Furthermore,rs1927907-A and rs1399431-T of TLR4 gene were found to be associated with reduced risk of developing extrapulmonary tuberculosis （EPTB） （Prs1927907 =0.042 and Ps1399431 =0.012）and severe TB（Prst399431 =0.012） in dominant inheritance model,and rs1399431-T was also associated with reduced risk of severe TB （Prs399431 =0.012）.Similarly,rs11536889-C was associated with risk of severe TB （Prs1399431 =0.024） in recessive inheritance model.Conclusion SNPs of TLR4 gene may be associated with TB,especially EPTB or severe TB in Han Chinese children.