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目的观察白细胞介素6(interleukin6,IL6)基因-572C/G多态性在中国人群中的分布频率、与心肌梗塞(myocardialinfarction,MI)易感性的关系、对MI患者冠脉病变程度的影响以及初步对该位点基因变异进行功能性分析。方法应用聚合酶链反应限制性片段长度多态性方法对232例MI患者和260名正常对照者IL6基因-572C/G多态性进行了分析,观察了该基因多态性对冠脉病变程度及外周血单核细胞(peripheralbloodmononuclearcells,PBMC)产生IL6能力的影响。结果中国汉族人群存在IL6基因-572C/G多态性;两组人群基因型、等位基因频率差异存在统计学意义,MI组CG+GG基因型频率、G等位基因频率均显著高于对照组(P<0.01);基因型频率的相对风险分析发现,G等位基因携带者患MI的风险是CC基因型的1.68倍(95%CI:1.17～2.41,P<0.01);-572C/G多态性在单支、双支、三支冠脉病变组间的分布差异无统计学意义(P>0.05);G等位基因携带者氧化低密度脂蛋白刺激24hPBMC产生IL6的能力明显高于CC基因型(P<0.05)。结论IL6基因-572G等位基因可能是中国汉族人MI的易感因子,这可能与携带该等位基因的人群存在IL6水平的高表达有关。
Objective To investigate the distribution of -572C / G polymorphism of interleukin 6 (IL6) gene -572C / G polymorphism in Chinese population, the relationship with susceptibility to myocardial infarction (MI) and the degree of coronary artery lesion in patients with MI. Preliminary analysis of the site of genetic variation of genes. Methods The -572C / G polymorphism of -572C / G polymorphism of IL6 gene in 232 patients with MI and 260 normal controls was analyzed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). The effect of this gene polymorphism on the degree of coronary artery lesion And peripheral blood mononuclear cells (peripheral blood mononuclear cells, PBMC) IL6 production capacity. Results There was a -572C / G polymorphism of IL6 gene in Chinese Han population. There was significant difference in genotype and allele frequency between the two groups. The frequencies of CG + GG genotype and G allele in MI group were significantly higher than those in control group (P <0.01). The relative risk analysis of genotype frequency found that the risk of MI in patients with G allele was 1.68 times of that of CC genotype (95% CI: 1.17-2.41, P <0.01) There was no significant difference in the distribution of G polymorphism between single, double and triple coronary artery disease groups (P> 0.05). The G allele carrying oxidized low density lipoprotein In CC genotype (P <0.05). Conclusion The -572G allele of IL6 gene may be a predisposing factor for MI in Han Chinese, which may be related to the high IL6 expression in the population carrying this allele.