白细胞介素-6基因多态性与腰椎间盘突出症及腰椎退变程度的相关性

Association of IL-6 gene polymorphism with lumbar disc herniation and intervertebral disc degeneration

目的探讨白细胞介素-6基因的单核苷酸多态性与腰椎间盘突出症及腰椎退变程度的相关性。方法采用病例-对照研究方法,随机选择腰椎间盘突出症患者321例和非腰椎间盘突出症患者361例,应用TaqMan探针技术对IL-6启动区基因-572C/G、-174G/C位点进行单核苷酸多态性检测,分析比较腰椎间盘突出症组(病例组)和非腰椎间盘突出症组(对照组)之间IL-6基因多态性与腰椎间盘突出症发病的相关性;根据MRI影像表现评估椎间盘退变程度,分析IL-6基因多态性与腰椎间盘退变的相关性。结果IL-6-572C/G基因型在病例组(CC 51.71%、CG 42.37%、GG 5.92%)和对照组(CC 64.27%、CG 34.07%、GG 1.62%)比较,差异有统计学意义(P<0.05);基因型频率的相对风险分析发现,等位基因G携带者患腰椎间盘突出症的风险是C携带者的1.617倍(95%CI:1.252~2.087,P<0.001)。IL-6基因-174位点基因型在病例组(GG 92.52%、CG 7.48%)和对照组(GG 90.30%、CG 9.70%),差异无统计学意义(P=0.304),基因型频率的相对风险分析发现,等位基因G携带者患腰椎间盘突出症的风险与C携带者差异无统计学意义(P=0.316)。IL-6-572C/G基因多态性分布与椎间盘退变MRI分级有相关性(P=0.003)。结论IL-6-572C/G多态性与腰椎间盘突出症之间存在相互关系,其中G等位基因可能是腰椎间盘突出症发病的遗传易感基因。IL-6基因启动子的-174位点变异率极低,其多态性与腰椎间盘突出症的发病无明显相关性。IL-6-572C/G基因多态性与腰椎间盘退变程度存在相互关系,其G等位基因可能参与了椎间盘的退变进程。

Objective:To investigate the association of single-nucleotide polymorphisms(SNPs)in pro-inflammatory cytokines interleukin 6(IL-6)with risk of lumbar disc herniation,explore the association of IL-6 gene polymorphisms and intervertebral disc degeneration.Methods:A paired case control study was conducted including 321 patients with lumbar disc herniation and 361 controls to investigate cases and controls by questionnaire.TaqMan technology was used to detect the SNPs of genes-572C/G and-174G/C of IL-6 promoter.We analyzed the association and differences in gene polymorphisms of IL-6 between lumbar disc herniation group and non-lumbar disc herniation group.Intervertebral disc degeneration was evaluated by MRI test.We analyzed the association of IL-6 gene polymorphisms and intervertebral disc degeneration.Results:Significant differences were observed in IL-6-572C/G genotype between lumbar disc herniation group(CC 51.69%,CG 42.32%,GG 5.99%)and the control group(CC 64.33%,CG 24.0%,GG 1.67%)(P<0.05).Relative risk test of genotype frequency showed that the risk of G allele carriers suffering from lumbar disc herniation was 1. 617 times as high as that of the C genotype(95% CI:1. 252-2. 087 P < 0. 001). There was no significant difference in distribution of the IL-6 gene-174 site genotype between lumbar disc herniation group(GG 92. 52%,CG 7. 48%)and the control group(GG 90. 30%,CG 9. 70%,P = 0. 304). Relative risk test of genotype frequency showed that there was no significant difference between the risk of G allele carriers suffering from lumbar disc herniation and the C genotype(P = 0. 316). IL-6-572C/G Conclusion:A correlation is found between IL-6-572C/G polymorphism and lumbar disc herniation, and the G allele may be the genetic susceptibility gene causing lumbar disc herniation. The mutation rate of the IL-6 gene - 174 site is very low,and there is no significant correlation between its polymorphism and lumbar disc herniation. A correlation is found between IL-6-572C/G polymorphism and intervertebral disc degeneration,and the G allele may have relation to the progress of intervertebral disc degeneration.