IL-6基因单核苷酸多态性与腰椎间盘疾病的关联研究

目的： 研究汉族人白细胞介素6（IL-6）基因启动子G-597-A、G-572-C和G-174-C、5号外显子T15-A和C132-T单核苷酸多态性与腰椎间盘疾病关系。 方法： 采用聚合酶链反应技术，扩增81例腰椎间盘疾病患者和101例正常对照者中分别包含启动子G-597-A、G-572-C、G-174-C和5号外显子T15-A、C132-T位点的片段，直接测序法检测其中的单核苷酸多态性情况，并比较两组中单核苷酸多态性与腰椎间盘疾病的关系。同时，利用MRI检测两组的椎间盘退变情况，并分析其中小于45岁者单核苷酸多态性与椎间盘退变的关系。 结果： 腰椎间盘疾病病例组及对照组中均未检测到启动子G-597-A和G-174-C、5号外显子T15-A和C132-T单核苷酸多态性情况，仅启动子G-572-C位点存在GG、CG和CC 3种表型。但启动子G-572-C单核苷酸多态性与腰椎间盘疾病及椎间盘退变严重程度无关。 结论： 在汉族人中，IL-6基因仅存在G-572-C单核苷酸多态性，但G-572-C单核苷酸多态性与椎间盘病变及其发病基础椎间盘退变并无关联。

Association of single nucleotide polymorphism in interleukin 6 gene with lumbar intervebral disc disease

AIM: To explore the association of single nucleotide polymorphisms of promoter G~ -597 -A, G~ -572 -C, G~ -174 -C and T~ 15 -A, C~ 132 -T in exon 5 of interleukin 6 and lumbar intervebral disc disease. METHODS: The single nucleotide polymorphisms of interleukin 6 gene, including polymorphisms of G~ -597 -A, G~ -572 -C in promoter, G~ -174 -C and T~ 15 -A, C~ 132 -T in exon 5 were analyzed by the polymerase chain reaction and sequencing methods in 81 cases with lumbar intervebral disc disease and 101 healthy controls. The association of single nucleotide polymorphisms of interleukin 6 gene with lumbar intervebral disc disease in two groups was measured. The association of single nucleotide polymorphisms of interleukin 6 gene with lumbar intervebral disc degeneration in those younger than 45-year-old were also measured. RESULTS: The G~ -572 -C polymorphism of interleukin 6 gene was observed, but no single nucleotide polymorphism of G~ -597 -A, G~ -174 -C in promoter and T~ 15 -A, C~ 132 -T in exon 5 in two groups was detected. There was no difference between the distribution of the G~ -572 -C polymorphism of interleukin 6 gene in two groups. In those younger than 45-year-old the association of the single nucleotide polymorphism of interlukin-6 gene and lumbar intervebral disc degeneration was not significant. CONCLUSION: There is G~ -572 -C polymorphism in Chinese. No relation between G~ -572 -C polymorphism of interleukin 6 with lumbar intervebral disc disease and lumbar intervebral disc degeneration was observed.