Abstract: Objective　To study the relation of vitamin D receptor （VDR） gene polymorphisms with susceptibility to pediatric tuberculosis （ TB） in Chinese Han population. Methods　The study samples included 125 pediatric TB patients and 446 matched healthy controls. Genetic polymorphisms of the VDR gene （FokI and TaqI） were analyzed by PCR-RFLP. The association analysis was performed using chi-square test by SPSS version 12.0. Results　There was no significant association between the overall risk of disease and any allele or genotype of the two VDR loci analyzed. The FF， Ff and ff genotype frequencies in patients and controls were 29.6%， 51.2%， 19.2% and 27.6%， 50.9%， 21.5%， respectively. The TT， Tt and tt genotype frequencies were 90.4%， 9.6%， 0 and 86.8%， 13.0%， 0.2%， respectively. When patients were stratified according to gender， it is found that the alleles and genotypes were distributed almost equally in case and control groups. Conclusion　No association was found between VDR polymorphisms （either allele or genotype） and susceptibility to pediatric TB in Chinese Han population.

Key words: polymorphism , vitamin D receptor gene, child

摘要： 目的　探讨维生素D受体（VDR）基因多态性与中国汉族儿童结核病易感性的关系。 方法　收集2005年1月至2008年3月北京儿童医院收治的125例汉族儿童 结核病患儿，以同期在北京儿童医院门诊行外科手术（如疝、牙齿矫正、鞘膜积液等）前查体的446例患儿作为对照，对照组无结核病史，X线胸片无异常，PPD皮 试硬结直径小于5 mm，按照年龄、性别以及居住地与病例组进行匹配，采用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）检测VDR基因上的Fok I和Taq I位点多态性，采用SPSS 12.0软件对病例组和对照组的基因型和等位基因频率进行卡方检验。 结果　结核组和对照组Fok I位点的FF、Ff、ff基因型频率分别为 29.6%、51.2%、19.2%和27.6%、50.9%、21.5%；Taq I位点的TT、Tt、tt基因型频率分别为90.4%、9.6%、0和86.8%、13.0%、0.2%；结核组和对照组在基因型频率 和等位基因频率分布上差异均无统计学意义。将样本按性别进行分组比较后发现，不同性别中病例组和对照组儿童的基因型和等位基因频率之间的差异无统计学 意义。 结论　VDR基因上的Fok I和Taq I位点的多态性与中国汉族儿童结核病的易感性无明显相关性。

关键词: 结核病, 维生素D受体基因, 儿童, 多态性