| ［摘要］ 目的：探讨冠心病（coronary heart disease, CHD）不同痰瘀证候与载脂蛋白E（apolipoprotein E, ApoE）基因第4外显子多态性的关系。方法：选择符合条件的CHD痰证、瘀证、痰瘀互阻证和非痰非瘀证（其他证型）患者200例，另选100名健康志愿者作为对照。常规检测所有样品的血脂水平。提取全血DNA，用聚合酶链反应限制性片段长度多态性（polymerase chain reactionrestriction fragment length polymorphism, PCRRFLP）技术检测ApoE基因型。采用SAS软件对基因多态性和痰瘀证候的辨证类型进行相关性分析。结果：（1）冠心病患者中ε4等位基因频率（19.5%）明显高于健康对照组（9.5%），具有统计学意义（P<0.05），其中尤以E 3/4基因型更为多见（P<0.01）。（2）携带ε4等位基因者的总胆固醇（total cholesterol, TC）、总甘油三酯（total triglycerides, TG）和低密度脂蛋白胆固醇（lowdensity lipoprotein cholesterol, LDLC）水平明显高于非携带者（P<0.01）。（3）痰证特别是E3/4基因型患者中E3/4型和ε4等位基因的频率明显高于血瘀证患者（P<0.05）。结论：ApoE ε4等位基因是冠心病的危险因素，携带此基因的患者与痰证关系较为密切，推测其可能是CHD痰证的主要易感基因之一。 ［关键词］ 冠心病; 载脂蛋白E类; 基因多态性; 痰瘀证候 Study on relationship between polymorphism of apolipoprotein E gene and syndromes of phlegm and blood stasis in patients with coronary heart disease ABSTRACT Objective: To explore the relationship between polymorphism of apolipoprotein E (ApoE) exon 4 gene and different syndromes in patients with coronary heart disease (CHD). Methods: Two hundred patients with CHD were divided into four groups according to syndrome differentiation, including syndrome of phlegm (PS), syndrome of blood stasis (BSS), syndrome of phlegmblood stasis blocking (PBBS) and syndrome of nonphlegm and nonblood stasis (NPNBS). One hundred healthy volunteers were included in control group. Blood lipids were measured by routine examination. Total DNA of peripheral blood was extracted. ApoE genotypes were determined by polymerase chain reactionrestriction fragment length polymorphism (PCRRFLP) technique. All data were analyzed by SAS software. Results: (1)The occurrence rate of ε4 allele of ApoE in patients with CHD was 19.5%, significantly higher than 9.5% in the control group (P<0.05), and the E 3/4 genotype was especially more frequent (P<0.01). (2) The levels of total cholesterol (TC), total triglycerides (TG) and lowdensity lipoprotein cholesterol (LDLC) in patients with ε4 were higher than those in patients without ε4 (P<0.01). (3) The frequencies of ε4 allele and E3/4 genotype in patients with PS were significantly higher than those in patients with BSS (P<0.05). Conclusion: ApoE ε4 allele, especially E3/4 genotype, is the risk factor of CHD. There is a relatively close relationship between patients with ApoE ε4 allele and PS. It may be one of the main susceptible genes in CHD patients with PS. KEY WORDS coronary heart disease; apolipoprotein E; gene polymorphism; syndrome of phlegm and blood stasis 载脂蛋白E（apolipoprotein E, ApoE）作为脂蛋白的组成部分和功能蛋白，对血脂代谢起调节作用, 编码ApoE基因的变异是影响血浆胆固醇浓度的重要遗传因素之一。已有报道证实：不同遗传背景人群的ApoE的基因多态性通过影响脂质代谢而与冠心病(coronary heart disease, CHD)的发病密切相关［1~3］。证候是中医认识和治疗疾病的根本，冠心病患者的临床表现以血瘀证和痰瘀互阻证为多见［4］。本研究对冠心病不同证候的发生和ApoE基因多态性的相关性进行了探讨，现报道如下。 1 资料与方法 1.1 病例纳入标准 选择在北京西苑医院和北京东方医院就诊的心肌梗死患者、或经冠状动脉造影及介入治疗确诊为冠心病的患者，这些患者均符合1999年美国心脏病协会AHA/WHO公布的冠心病分型和诊断标准［5］。然后对这些患者进行中医辨证确定证候类型。痰证、血瘀证、痰瘀互阻证、气虚证、阳虚证、阴虚证、气滞证、寒凝证等参考国家技术监督局发布的《中医临床诊疗术语・证候部分》（国家标准GB/T16751.21997）。 1.2 病例排除标准 半年内曾有严重创伤或重大手术者；肾病综合征，甲状腺功能减退症，急性肝胆疾病及糖尿病患者；服用药物影响血脂代谢的患者；正在使用影响血脂代谢药物的患者。 1.3 病例资料 按上述标准纳入不同证候类型的冠心病患者共200例，其中男105例，女95例；平均年龄(63.6±5.8)岁；其中痰证20例（10%），瘀证79例（39.5%），痰瘀互阻证82例（41%），非痰非瘀证19例（9.5%）；身体质量指数（body mass index, BMI）为15.1～3 |