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目的:探讨中国北方汉族人群中白细胞介素-6(IL-6)基因启动子区-572C/G单核苷酸多态性与冠心病的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,检测434例冠心病(冠心病组)患者和417名非冠心病人(对照组)的IL-6基因型,探讨-572C/G单核苷酸多态与冠心病的关系。结果:IL-6基因-572C/G多态位点的CC、CG和GG基因型在冠心病组中分别为59.68%、37.09%、3.23%,等位基因频率C和G分别为78.23%、21.77%;在健康成年者中基因型分别为67.87%、30.22%、1.92%,等位基因频率C和G分别为82.97%、17.03%。IL-6基因-572C/G位点多态性在两组人群中的分布差异存在显著性(P<0.05);经Logsitic回归校正性别、年龄、体重指数、高血压病、糖尿病、高胆固醇血症及吸烟等冠心病易患因素后,IL-6基因-572C/G单核苷酸多态是冠心病发病的独立的危险因素(P<0.05);等位基因频率的相对风险分析发现,G等位基因携带者患冠心病的风险是C等位基因的1.356倍〔OR=1.356,95%CI=1.0648～1.7279〕。结论:在中国北方汉族人群中IL-6基因-572C/G单核苷酸多态性与冠心病的发病具有相关性,其等位基因G是冠心病重要的遗传学标记。
Objective: To investigate the association of -572C / G SNP in interleukin-6 (IL-6) gene promoter region with coronary heart disease in Chinese Han population in northern China. Methods: The genotypes of IL-6 in 434 CHD patients and 417 non-CHD patients (control group) were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) To investigate the relationship between -572C / G single nucleotide polymorphisms and coronary heart disease. Results: The CC, CG and GG genotypes of -572C / G polymorphism in IL-6 gene were 59.68%, 37.09% and 3.23% in coronary heart disease group respectively. The allele frequencies C and G were 78.23% 21.77% respectively. The genotypes of healthy adults were 67.87%, 30.22% and 1.92% respectively. The allele frequencies C and G were 82.97% and 17.03% respectively. The distribution of -572C / G polymorphism in IL-6 gene was significantly different between the two groups (P <0.05). Logsitic regression was used to correct the gender, age, body mass index, hypertension, diabetes, hypercholesterolemia IL-6 gene-572C / G SNP was an independent risk factor for CHD after smoking and coronary heart disease (P <0.05). Relative risk analysis of allele frequency showed that IL- Patients with G allele had a 1.356-fold greater risk of coronary heart disease than those with C-allele (OR = 1.356, 95% CI = 1.0648-1.7279). CONCLUSIONS: The -572C / G SNP of IL-6 gene is associated with the incidence of coronary heart disease in Chinese Han population in northern China. The allele G is an important genetic marker of coronary heart disease.