首都医科大学学报 ›› 2015, Vol. 36 ›› Issue (4): 622-629.doi: 10.3969/j.issn.1006-7795.2015.04.022

• 基础研究 • 上一篇    下一篇

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

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   

  1. 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
  • 收稿日期:2014-11-09 出版日期:2015-08-21 发布日期:2015-07-17
  • 通讯作者: 申阿东 E-mail:shenad16@hotmail.com

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

Xiao Jing1, Xie Lanpin2, Dong Yakun2, Wang Xiaoming3, Sun Lin1, Qi Hui1, Shen Adong1   

  1. 1. Beijing Key Laboratory of Pediatric Respiratory Infectious Diseases, Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics, Capital Medical University, Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China;
    2. Department of Tuber Culosis, Hebei Chest Hospital, Key Discipline of Hebei Province in Medicine, Shijiazhuang 050041, China;
    3. Department of Gastroenterology, Children's Hospital of Hebei Province, Shijiazhuang 050031, China
  • Received:2014-11-09 Online:2015-08-21 Published:2015-07-17

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MassARRAY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。

关键词: TIRAP, 多态性, 结核病, 中国汉族儿童, 易感性

Abstract:

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.

Key words: TIRAP, polymorphism, tuberculosis, Chinese Han children, susceptibility

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