为研究汉族人白细胞介素-1b（IL-1b）基因 ^-511T>C 和 ⁺³⁹⁵⁴C>T位点单核苷酸多态性与腰椎间盘疾病的关系, 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IL-1b 基因 ^-511T>C 和 ⁺³⁹⁵⁴C>T 位点的片段, 酶切法鉴定 IL-1b基因 ^-511T>C和 ⁺³⁹⁵⁴C>T 位点单核苷酸多态性情况, 比较两组中基因多态性与腰椎间盘疾病的关系。同时, 利用 MRI 检测两组腰椎间盘退变的情况, 并分析其中小于45岁者IL-1b基因多态性与腰椎间盘退变严重程度的关系。结果显示, 腰椎间盘疾病病例组及对照组中均存在IL-1b基因 ^-511T>C 和 ⁺³⁹⁵⁴C>T 位点单核苷酸多态性。IL-1b 基因 ^-511T>C 位点 TT、TC 和 CC基因型, T、C 基因型差别与腰椎间盘疾病有关（P<0.01）, 与腰椎间盘退变严重程度无关(P>0.05), 但IL-1b基因 ⁺³⁹⁵⁴C>T 位点单核苷酸多态性与腰椎间盘退变严重程度及腰椎间盘疾病均无关(P>0.05)。表明在汉族人中, 存在 IL-1b 基因 ^-511T>C 和 ⁺³⁹⁵⁴C>T 位点单核苷酸多态性, 但仅 ^-511T>C 位点单核苷酸多态性与腰椎间盘疾病有关。

This study was to explore the relationships between ^-511T>C and ⁺³⁹⁵⁴C>T single nucleotide polymorphisms(SNP) in IL-1b gene with lumbar intervertebral disc disease. We analyzed ^-511T>C and ⁺³⁹⁵⁴C>T SNP in IL-1b gene by the polymerase chain reaction-restriction fragment length polymorphism and electrophoresis methods respectively in 81 cases with lumbar disc disease and 101 healthy controls. The relationship between ^-511T>C and ⁺³⁹⁵⁴C>T SNP in IL-1b gene and lumbar disc disease in two groups was measured, so does the relationship between ^-511T>C and ⁺³⁹⁵⁴C>T SNP in IL-1b gene and intervertebral disc degeneration in those younger than 45-year-old. The results showed there were ^-511T>C and ⁺³⁹⁵⁴C>T SNP in IL-1b gene. There was a significant difference in the distribution of TT, TC and CC genotype or T, C genotype of -511T>C of IL-1b in two groups. And there was no significant difference in the distribution of ⁺³⁹⁵⁴C>T SNP in IL-1b gene in two groups. There was no significant difference between the distribution of ^-511T>C and ⁺³⁹⁵⁴C>T SNP in IL-1b gene and intervertebral disc degeneration in those younger than 45-year-old. It suggested ^-511T>C SNP in IL-1b gene be one of the susceptible alleles for Lumbar disc disease.