中文摘要：

背景：研究提示白细胞介素12可能在骨关节结核发生中发挥免疫调节作用。目的：分析白细胞介素12A基因rs568408 G/A和白细胞介素12B基因rs3212227 A/C位点单核苷酸多态性与广西壮族人群骨关节结核易感相关性及其与骨关节结核患者血清白细胞介素12水平的关系。方法：采用单碱基延伸的PCR技术和DNA测序方法对150例骨关节结核患者（病例组）及165例健康体检者（对照组）rs568408和rs3212227位点进行多态性检测，分析各基因型以及等位基因的分布频率，各基因型与骨关节结核易感性的关系。结合已检测的血清白细胞介素12水平，分析2位点基因型与骨关节结核患者血清白细胞介素12水平的关系。结果与结论：白细胞介素12A基因rs568408 G/A位点和白细胞介素12B基因rs3212227 A/C位点在对照组与骨关节结核组中的基因型及等位基因频率分布差异无显著性意义（P〉0.05）。2个位点的4种单倍型在对照组和骨关节结核组中的分布差异亦无显著性意义（P〉0.05）。病例组rs568408位点野生型GG和GA＋AA突变型间血清白细胞介素12水平比较差异无显著性意义（P〉0.05），rs3212227位点野生型AA和AC＋CC突变型间血清白细胞介素12水平比较差异无显著性意义（P〉0.05）。说明白细胞介素12A基因 rs568408 G/A和白细胞介素12B基因 rs3212227 A/C位点多态性可能与广西壮族人群骨关节结核易感性无关。

英文摘要：

BACKGROUND：Interleukin-12 （IL-12） may function as an immune regulator in the pathogenesis of osteoarticular tuberculosis. OBJECTIVE：To explore the association of single-nucleotide polymorphisms in IL-12A rs568408 G/A and IL-12B rs3212227 A/C with susceptibility to osteoarticular tuberculosis and serum interleukin-12 levels in Guangxi Zhuang population. METHODS：The single-nucleotide polymorphisms in IL-12A rs568408 G/A and IL-12B rs3212227 A/C polymorphisms were detected by polymerase chain reaction-single base extension technique and direct DNA sequencing in 150 patients with osteoarticular tuberculosis （disease group） and 165 healthy individuals （control group） in Guangxi Zhuang population. The genotype and al ele frequencies of IL-12 and the relationship of genotypes to the susceptibility to osteoarticular tuberculosis were analyzed. In addition, the association of genotypes of single-nucleotide polymorphisms in IL-12A rs568408 G/A and IL-12B rs3212227 A/C with serum IL-12 levels were analyzed. RESULTS AND CONCLUSION：There was no significant difference in the genotype and al ele frequencies of IL-12A rs568408 G/A and IL-12B rs3212227 A/C between the disease group and the control group （P〉0.05）. Moreover, there was no difference in four haplotypes of IL-12 gene between the disease group and the control group （P〉0.05）. Serum IL-12 levels in subjects with osteoarticular tuberculosis carrying the variant rs568408 GA/AA genotypes and wild-type rs568408 GG genotypes were similar （P〉0.05）. Similarly, there was no significant difference in serum IL-12 levels between subjects with osteoarticular tuberculosis carrying the variant rs3212227 AC/CC genotypes and wild-type rs3212227 AA genotypes （P〉0.05）. These findings suggest that the single-nucleotide polymorphisms in IL-12A rs568408 G/A and IL-12B rs3212227 A/C polymorphisms are not associated with susceptibility to osteoarticular tuberculosis in Guangxi Zhuang population.