白细胞介素1受体拮抗剂基因86 bp可变串联重复序列多态性与椎间盘疾病的关系

目的 研究汉族人白细胞介素1受体拮抗剂(IL-1Ra)基因86 bp可变串联重复序列(VNTR)多态性与椎间盘疾病和椎间盘退变的关系.方法 采用聚合酶链反应技术,扩增81例椎间盘疾病患者和101例对照者中包含IL-1Ra基因86bpVNTR位点的片段,直接电泳法鉴定IL-1Ra基因86 bp VNTR的多态性情况,MRI检测两组的椎间盘退变情况,比较其中小于45岁者86 bp VNTR多态性与椎间盘疾病与椎间盘退变的关系.结果 椎间盘疾病病例组及对照组中均存在IL-1Ra基因86 bp VNTR位点多态性情况,IL-1Ra基因86 bp VNTR位点1/1、2/2和1/2表型,1、2等位基因与椎间盘疾病有关,但IL-1Ra基因86 bp VNTR位点核苷酸1/1、2/2和1/2基因型与腰椎间盘退变严重程度无关.结论 在汉族人中,存在IL-1Ra基因86 bp VNTR位点核苷酸多态性,其仅与椎间盘疾病有关,与椎间盘退变严重程度无关.

Association of 86 bp variable number tandem repeat polymorphism of interleukin-1 receptor antagonist gene with lumbar disc disease

Objective To investigate the association of 86 bp variable number tandem repeat(VNTR)polymorphism of interleukin-1 receptor antagonist(IL-1Ra)gene with lumbar disc disease and intervertebral disc degeneration.Methods The 86 bp VNTR polymorphism of IL-1Ra gene was analyzed with PCR and electrophoresis for 81 patients with lumbar disc disease and 101 volunteers without sciatica(control).The grade of intervertebral disc degeneration was determined with magnetic resonance imaging,and the association of 86 bp VNTR polymorphisms with lumbar disc disease and intervertebral disc degeneration in those younger than 45 years was assessed.Results The presence of 86bp VNTR polymorphisms of IL-1Ra gene was detected in both patients with lumbar disc disease and the control subjects.The distribution of 86 bp VNTR polymorphisms of IL-1Ra gene showed no significant difference between the two groups,but the distributions of 1/1,1/2 and 2/2 or 1,2 genotypes differed significantly.The current data did not support a significant association between the distribution of IL-1Ra gene 86bp VNTR polymorphism and lumbar disc degeneration.Conclusions IL-1Ra gene 86bp VNTR polymorphism is present among Chinese population in association with lumbar disc disease,but not with lumbar disc degeneration.