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目的 探讨中国人内源性高甘油三酯血症 (endogenous hypertriglyceridemia,HTG)患者载脂蛋白 E(apolipoprotein E,apo E)基因多态性及其与血脂和载脂蛋白水平的关系。方法 采用聚合酶链反应 -限制性片段长度多态性分析方法 ,分别对 2 2 5例 HTG患者及 2 30名血脂正常者的 apo E基因型、空腹血脂及载脂蛋白 A 、A 、B10 0、C 、C 、E进行了分析。结果 HTG患者的体重指数 (BMI)、血清甘油三酯 (TG)、总胆固醇 (TC)、非高密度脂蛋白胆固醇 (n HDL C)水平较对照组显著升高 ,血清高密度脂蛋白胆固醇 (HDL C)则显著降低 (P<0 .0 0 1) ,并伴有载脂蛋白水平的异常。HTG组与对照组 apo E基因型及等位基因频率分布均以 E3/ 3和ε3最高 ,HTG组的ε2 等位基因有增高的趋势 (P>0 .0 5 )。对照组ε2 等位基因携带者血清 TG和 apo E水平较ε3和ε4等位基因携带者显著升高 (P<0 .0 0 1) ,其低密度脂蛋白胆固醇(L DL C)水平及 apo E/ apo C 比值则显著降低 (P<0 .0 0 1)。结论 ε2 等位基因与血清 TG和 apo E水平升高及 L DL C水平降低有关 ,apo E/ apo C 比值降低可能与 HTG患者血 TG水平升高有关。
Objective To investigate the polymorphism of apolipoprotein E (apo E) gene in Chinese patients with endogenous hypertriglyceridemia (HTG) and its relationship with serum lipids and apolipoproteins. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the apo E genotypes, fasting blood lipids and apolipoprotein A, A, B10 0 in 225 HTG patients and 230 normal subjects , C, C, E were analyzed. Results The body mass index (BMI), serum triglyceride (TG), total cholesterol (TC) and non-HDL C in HTG patients were significantly higher than those in control group. The levels of serum high density lipoprotein cholesterol HDL C) was significantly lower (P <0.001), accompanied by abnormal levels of apolipoprotein. The frequencies of apo E genotypes and alleles in HTG group and control group were the highest at E3 / 3 and ε3, while the ε2 allele in HTG group was increased (P> 0.05). The levels of serum TG and apo E in the control group were significantly higher than those in the ε3 and ε4 alleles (P0.01), and the levels of LDL-C and apo E / apo C ratio was significantly lower (P <0. Conclusion The ε2 allele is associated with the elevation of serum TG and apo E levels and the decrease of L DL C level. The decrease of apo E / apo C ratio may be related to the increase of serum TG level in HTG patients.