白细胞介素6基因-572C/G多态性与心肌梗塞易感性的关联研究

目的观察白细胞介素6（interleukin 6，IL6）基因-572C／G多态性在中国人群中的分布频率、与心肌梗塞（myocardial infarction，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（peripheral blood mononuclear cells，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等位基因携带者息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24h PBMC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。

Study on linkage between polymorphism of interleukin 6 gene -572C/G and susceptibility to myocardial infarction

Objective To observe the polymorphism and gene frequency of interleukin 6(IL6) gene-572C/G in Chinese Han nationality population, that associating with susceptibility to myocardial infarction (MI) and impacting on the extent of coronary artery lesions; to analyze the function ofIL6 gene -572C/G polymorphism. Methods With PCR-RFLP method, IL6 gene -572C/G polymorphism was genotyped to 232 MI patients and 260 healthy adults. The effect of IL6 gene -572C/G polymorphism was observed to the extent of coronary artery lesions and the ability of IL6 production from peripheral blood mononuclear cells (PBMC). Results There was IL6 gene -572C/G polymorphism in Chinese Hans. -572CG+GG genotype and G allele were more frequent in patients than in controls (P<0.01). The relative risk for G allele carrier to suffer from MI was 1.68 times of CC genotype individual (95%CI:1.17-2.41,P<0.01). However, the distribution of IL6 gene -572C/G polymorphism was no significant difference among patients with single-vessel, two-vessel and three-vessel lesions (P>0.05). After PBMC cultured for 24 h, the IL6 concentration in supernatant was significantly higher in subjects with CG genotype than those with CC genotype (P<0.05). Conclusion IL6 gene -572G allele may be a genetic susceptibility factor to MI attack of Chinese Hans population, and related to the high expression of IL6.