目的：研究不同体质类型冠心病（CHD）心血瘀阻证患者的载脂蛋白E（ApoE）基因多态性分布及对血管内皮细胞功能的影响。方法：运用全序列基因测序法对556例冠心病心血瘀阻证患者进行ApoE基因分型，分析ApoE基因多态性与血管内皮细胞功能水平的关系。结果：各体质组的E3/3基因型频率明显低于健康组，E3/4频率明显高于健康组。另外气虚质E3/3高于血瘀质和阳虚质，而血瘀质和阳虚质的E3/4高于气虚质；血瘀、阳虚和气虚体质CHD心血瘀阻证患者各基因型组ET和ET/NO水平均高于健康组（P<0.05），血瘀体质心血瘀阻证患者基因型组内，E3/4+E4/4基因型ET高于其它基因型（P<0.01），阳虚和气虚体质CHD心血瘀阻证患者各基因型组内ET、NO、ET/NO水平无明显差异。结论：E3/4、E3/3ApoE基因型可能为CHD心血瘀阻证的易感基因型，在不同体质之间有一定差异；血瘀质冠心病心血瘀阻证患者携带E4等位基因的ApoE基因多态性可能具有“升高ET水平”的作用。

This article was aimed to study the distribution and effects of apolipoprotein E (ApoE) gene polymorphism of different constitutional types among coronary heart disease (CHD) patients with blood stasis syndrome on vascular endothelial cell(VEC) function. The whole gene sequencing method was used to identify genotypes of ApoE gene among 556 CHD patients with blood stasis syndrome, in order to analyze the relationship between polymorphism of ApoE gene and the level of VEC function. The results showed that the frequency of E3/3 genotype of each physical group was significantly lower than that of the healthy group; and the frequency of E3/4 genotype was significantly higher than that of the healthy group. In addition, the frequency of E3/3 genotype in qi deficiency constitution group was higher than that of blood stasis constitution group and yang deficiency constitution group; but the frequency of E3/4 genotype in blood stasis constitution group and yang deficiency constitution group was higher than that of the qi deficiency constitution group. The levels of ET and ET/NO in each of genotype groups of blood stasis constitution, yang deficiency constitution, qi deficiency constitution of CHD patients with blood stasis syndrome were higher than that of the healthy group (P < 0.05). In the genotype group of blood stasis constitution of CHD patients with blood stasis syndrome, the frequency of E3/4+E4/4 genotype ET was higher than that of other genotypes (P < 0.01). The levels of ET, NO, ET/NO in genotype groups of yang deficiency constitution and qi deficiency constitution of CHD patients with blood stasis syndrome were not significantly different. It was concluded that ApoE genotype E3/4, E3/3 may be the susceptible genotypes of blood stasis syndrome in CHD. There is a certain difference among different constitutional types. CHD with blood stasis syndrome patients, who are the constitution of blood stasis, carrying the ApoE gene polymorphism of E4 allele may have the function of "increasing the ET level".

国家自然科学基金委面上项目（30973701）：不同体质类型冠心病心血瘀阻证的遗传倾向与ApoE基因多态性的相关研究，负责人：田松；国家自然科学基金委面上项目（81273669）：基于差异蛋白质组学的冠心病同病异证与2型糖尿病异病同证的物质基础研究，负责人：田松。