Abstract:

Objective　To explore the association between polymorphisms of IL12RB1 and IL12RB2 genes and the susceptibility to tuberculosis（TB） in Chinese Han children. Methods　A case-control study was performed in 362 Chinese Han pediatric TB patients admitted to Beijing Children’s Hospital between February 2005 and October 2011，and 400 healthy controls. MassARRAY was used for genotyping in 16 single nucleotide polymorphisms（SNPs） of IL12RB1 and IL12RB2 genes. Logistic regression was used to analyze differences of allele and genotype distributions of SNP polymorphisms between the two groups，and the multifactor dimensionality reduction（MDR） method was used for analyzing the association between the interactions of SNPs and susceptibility to TB. Results　No statistical difference was found in the allele，genotype and haplotype distributions of all SNPs in IL12RB1 and IL12RB2 genes between the two groups（P > 0.0036）. The MDR method results indicated that there was no association found between the interactions of all SNPs and susceptibility to TB（P > 0.0036）. Conclusion　No association is found between polymorphisms of IL12RB1 and IL12RB2 genes and susceptibility to TB in Chinese Han children.

Key words: tuberculosis, IL12RB1, IL12RB2, single nucleotide polymorphism, interaction, China

摘要：

目的　探讨IL12RB1和IL12RB2基因多态性与中国汉族儿童结核病（TB）易感的相关性。方法　收集2005年2月至2011年10月首都医科大学附属北京儿童医院收治的362例汉族儿童TB患者的临床资料，以同期进行体检的未患TB的400名儿童作为对照，开展病例对照研究。利用高通量的MassARRAY平台，对于IL12RB1和IL12RB2基因的16个单核苷酸多态性（single nucleotide polymorphisms，SNP）位点展开基因分型。通过Logistic回归分析两组间各SNP位点等位基因频率和基因型频率的分布差异，并应用多因子降维法（multifactor dimensionality reduction，MDR）分析两组间各基因SNP位点间交互作用与TB易感的相关性。结果　IL12RB1和IL12RB2基因各SNP位点的等位基因、基因型以及单体型的组间频率分布差异均无统计学意义（P > 0.0036）。MDR方法分析结果未发现各基因SNP间交互作用与TB易感的相关性（P > 0.0036）。结论　IL12RB1和IL12RB2基因多态性可能与中国汉族儿童TB的发病并无相关性。

关键词: 结核病, IL12RB1, IL12RB2, 单核苷酸多态性, 交互作用, 中国