中国汉族儿童TIRAP基因单核苷酸多态性分析未显示其与结核病的易感相关  

Polymorphisms in the TIRAP gene has no correlation with pediatric tuberculosis in a Chinese Han children

作　　者：肖婧[1] 谢兰品[2] 董雅坤[2] 王晓明[3] 孙琳[1] 綦辉[1] 申阿东[1] 

机构地区：[1]首都医科大学附属北京儿童医院北京市儿科研究所结核病研究室儿科学国家重点学科教育部儿科重大疾病研究重点实验室儿童呼吸道感染性疾病研究北京市重点实验室,北京100045 [2]河北省胸科医院结核科河北省医学重点发展学科,石家庄050041 [3]河北省儿童医院感染消化科,石家庄050031

出　　处：《首都医科大学学报》2015年第4期622-629,共8页Journal of Capital Medical University

摘　　要：目的探讨中国汉族儿童TIRAP基因Tag SNP位点的多态性与结核病易感性相关关系,以明确TIRAP基因在儿童结核病发病中的作用。方法本课题组收集339名汉族儿童结核病患者,以同期查体的392名儿童作为对照,采用病例对照研究,应用高通量Mass ARRAY技术对于TIRAP基因的SNP位点进行基因分型研究。使用的是改进的盐析法进行基因组DNA的提取。结果 TIRAP基因的5个Tag SNPs(rs563011、rs8177400、rs1786704、rs8177375、rs8177352),除了1个SNP位点(rs563011)等位基因检出率<95%及1个(rs8177400)AA基因型在人群中的分布为0,另外3个SNPs位点(rs1786704、rs8177375、rs8177352)的等位基因、基因型以及单体型在结核病组和对照组的分布差异均无统计学意义(P>0.05)。结论 TIRAP基因多态性与中国汉族儿童结核病易感不存在相关性。Objective Although the Toll-like receptors（TLRs） are responsible for the recognition and response to pathogen ligands, increasing evidence suggests that the family of five cytosolic Toll/IL-1 receptor（TIR） adaptor proteins also play a crucial role in the specificity of the response. To explore the potential role of the TIRAP gene in the susceptibility to TB among members of the Chinese Han Children, we evaluated the association of tag single nucleotide polymorphisms（SNPs） in the TIRAP gene with the risk for TB. Methods We collected 339 TB children and 392 healthy controls in our case-control study and used MassARRAY for genotyping. DNA samples were extracted using the standard salting-out procedure. Results Five tag SNPs were selected. We excluded 2 SNPs （ rs563011 and rs8177400）, the allelic detection rate of the first one is less than 95% and the AA genotype of the second one is zero. We did not find any statistical significance of distribution analysis of three SNPs of TIRAP genes （rs1786704, rs8177375, rs8177352） in TB group and control group with analysis of alleles, genotypes and haplotypes of SNPs （P 〉 0.05 ）. Conclusion SNPs of TIRAP genes were not associated with TB in Chinese Han children.

关 键 词：TIRAP 多态性 结核病 中国汉族儿童 易感性 

分 类 号：R725.1[医药卫生—儿科]