早发冠心病患者载脂蛋白A5基因多态性的研究

目的:研究中国北方汉族人群中载脂蛋白A5基因(APOA5) -1131T/C多态性与早发冠心病的关系.方法:采用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)结合聚丙烯酰胺凝胶电泳(polyacrylamide gel electrophoresis,PAGE)技术检测了140例经冠状动脉造影明确诊断的早发冠心病患者和156例健康对照者APOA5-1131T/C多态性基因型和等位基因的分布,同时检测了研究对象的血脂水平.结果:早发冠心病组APOA5-1131C等位基因频率明显高于对照组(43.2% vs 33.0%,P=0.011) .CC纯合子患早发冠心病的风险是TT纯合子的2.809倍(95% CI 1.331～5.927),且通过Logistic回归分析发现该相关性独立于性别、年龄、体重指数(body mass index,BMI)、吸烟史及血清胆固醇(total cholesterol,TC)、高密度脂蛋白胆固醇(high density lipoprotein cholesterol,HDL-C)、低密度脂蛋白胆固醇(low density lipoprotein cholesterol,LDL-C)水平;早发冠心病组CC纯合子的甘油三酯(triglyceride,TG)水平明显高于TC杂合子及TT纯合子.结论:APOA5-1131T/C基因多态性对人群血清TG水平有影响,APOA5-1131C等位基因可能与我国北方汉族人早发冠心病的发生相关联.

Study on polymorphism in the apolipoprotein A5 gene in patients with premature coronary heart disease

Objective:To investigate the association between the apolipoprotein A5(APOA5) -1131T/C polymorphism and premature coronary heart disease in northern Chinese Han population. Methods: Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and polyacrylamide gel electrophoresis (PAGE), we analyzed the genotype and allele distribution in 140 patients with premature coronary heart disease diagnosed by coronary angiography and 156 healthy controls. The levels of serum lipid profiles were also studied by biochemical methods. Results: The allele frequency of APOA5-1131T/C polymorphism in the premature coronary heart disease group was significantly higher (43.2% vs. 33.0%, P=0.011) than that in the control group. Compared with TT homozygotes, CC homozygotes exhibited a 2.809-fold (95% CI 1.331-5.927) increased risk of developing premature coronary heart disease. Logistic regression analysis found that this correlation was independent of sex, age, body mass index (BMI), smoking history as well as serum total cholesterol(TC), high density lipoprotein cholesterol (HDL-C) and low density lipoprotein cholesterol (LDL-C) levels; In premature coronary heart disease group, the triglyceride(TG) level in CC homozygotes was significantly higher than those in TC heterozygotes or TT homozygotes. Conclusion: The APOA5-1131T/C polymorphism has influence on serum TG level, and the APOA5-1131C allele is associated with the development of premature coronary heart disease in northern Chinese Han population.