白介素-18基因多态性与结核病易感性的相关性研究  

Relationship Between Interleukin-18 Gene Polymorphisms and Susceptiblity of Pulmonary Tuberculosis

作　　者：韩敏[1] 乐军[1] 练媛媛[1] 刘建芳[1] 刘丽蓉[1] 

机构地区：[1]同济大学附属上海市肺科医院上海市结核(肺)重点实验室,上海200433

出　　处：《中华医院感染学杂志》2009年第18期2390-2393,共4页Chinese Journal of Nosocomiology

基　　金：国家973计划重大疾病防治基础研究项目(2005CB523102)

摘　　要：目的探讨白介素-18(IL-18)基因多态性(SNP)与中国汉族人群肺结核病易感性的关系。方法采用病例-对照的研究方法,选取94例成年汉族肺结核病患者作为病例组和93例健康汉族体检者作为对照组,应用新型的SNaPshotSNP分型技术,分析其基因型、等位基因频率,多态性位点间的连锁不平衡(1inkage disequilibrium,LD)系数(D’)及单倍体型频率。结果基因测序测得IL-18存在3个有意义的多态性位点-607A/C,+105A/C,-372C/G,-607A/C与-372C/G位于启动子区,+105A/C位于编码区存在4种单倍体型(ACA、ACC、AGA、CCA);病例组与对照组IL-18基因3个SNP位点的基因型频率、基因频率及单倍体型差异均无统计学意义(P>0.05),多态性位点间存在强的连锁不平衡。结论研究发现,IL-18基因多态性与结核病易感性没有存在明显的相关性,IL-18基因多态性位点不是中国汉族人群结核病易感性的主要遗传因素。OBJECTIVE To investigate the relationship between the interleukin-18 gene polymorphisms and susceptibility to pulmonary tuberculosis（PTB） among Han nationality populations of China. METHODS A casecontrol study was designed and adopted. 94 patients with PTB and 93 healthy control subjects were collected in this study, and their polymorphisms were detected with SNaPshot. The genotype and allele frequencies, the D′ value between these SNPs sites, and the haplotype and their frequencies were analyzed, separately. RESULTS Three polymorphisms of interleukin-18 （- 607A/C, ＋105A/C and --372C/G）were detected by using gene sequencing. --607A/C and --372C/G were located at the promoter region, ＋105A/C was located at the coding region. The 4 haplotypes were ACA, ACC, AGA and CCA in the Han population of China, No statistical significance was found with any of the populations （P 〉0. 05）. CONCLUSIONS Interleukin-18 gene polymorphisms are not associated with PTB in a Chinese population. We suggest that IL-18 gene polymorphisms be not the major genetic factors for susceptibility to PTB in the Han populations investigated.

关 键 词：肺结核病 白细胞介素-18 基因多态性 疾病易感性 连锁不平衡 

分 类 号：R521[医药卫生—内科学]