白细胞介素-6基因启动子-572C/G多态性与脑梗死关系的研究

目的　探讨白细胞介素 6(IL 6)基因启动子 5 72C/G多态性各等位基因及基因型在脑梗死患者中的分布频率 ,并分析其基因型及血清水平与脑梗死的关系。方法　采用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)技术检测 160例脑梗死患者及 175例健康者 (对照组 )IL 6基因启动子 5 72C/G多态性 ,同时采用酶联免疫吸附试验 (ELISA)检测两组IL 6水平。结果　脑梗死组IL 6血清水平显著高于对照组 (P <0 .0 1) ,IL 6基因启动子 5 72C/G基因型频率和等位基因频率在脑梗死组和对照组间比较差异有显著性 (P <0 .0 5 ) ,经等位基因频率的相对风险分析发现 ,G等位基因携带者发生脑梗死的风险是C等位基因的 1.60 6倍 (OR =1.60 6,95 %CI:1.10 5～ 2 .3 3 4) ,携带G等位基因的脑梗死患者IL 6血清水平显著高于不携带者 (P <0 .0 5 )。结论　IL 6基因启动子 5 72C/G多态性与脑梗死的发病具有相关性 ,G等位基因可能是脑梗死发病的遗传易感基因 ,携带G等位基因的个体可能通过促进IL 6的高度表达进而增加脑梗死的发病风险

Association of the IL-6 gene promoter -572C/G Polymorphism and cerebral infarction

Objective To study the relationship of the allele frequencies and genotype distribution of interleukin(IL 6)gene promoter 572C/G polymorphism in cerebral infarction,And analysize association of the serum levels and genotype of IL 6 with cerebral infarction in Chinese populations. Methods The IL 6 gene promoter 572C/G polymorphism were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR RFLP) analysis among 160 patients with cerebral infarction and 175 patients with healthy controls, and the serum level of IL 6 was determined by enzyme linked immunosorbent assay(ELISA). Results Cerebral infarction group showed significantly higher serum levels of IL 6 than that in control group(P<0.01), There was significant difference in frequencies of allele and genotype in 572C/G polymorphism between cerebral infarction and control groups respectively(P<0.05). The relative risk suffered from cerebral infarction of C allele was 1.606 times of the G allele(OR=1.606,95%CI:1.105～2.334), the serum IL 6 level was significantly higher among carriers of G allele as compared with non carriers(C allele) ( P<0.05). Conclusion IL 6 gene promoter 572C/G polymorphism was associated with cerebral infarction, and G allele may be a genetic risk factor of cerebral infarction. In which the IL 6 G allele carriers may be increase risk by enhancing the IL 6 expression in the pathogenesis of cerebral infarction.