中国人Ⅱb型高脂蛋白血症apoE基因多态性的研究

目的 探讨中国人Ⅱb型高脂蛋白血症患者载脂蛋白E（apoE)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－限制性酶切片段长度多态性法（PCR－RFLP），分别对74例Ⅱb型高脂血症患者及230例血脂正常者apoE基因型、空腹血脂及载脂蛋白AⅠ、AⅡ、B100、CⅡ、CⅢ、E进行了全面分析。结果 Ⅱb型高脂血症患者的体重指数（BMI），血清甘油三酯（TG），总胆固醇（TC），低密度 蛋白胆固醇（LDLC），非高密度脂蛋白胆固醇（nHDLC)，载脂蛋白AⅡ、B100、CⅡ、CⅢ、E水平及TG／HDLC比值均较对照组显著升高（P＜0．001）；血清高密度脂蛋白胆固醇（HDLC）水平及apoE/apoCⅢ比值比显著降低（P＜0．05）。Ⅱb型高脂血症组与对照组apoE基因型及等位基因频率分布均以E3／3和ε3最高，Ⅱb型高脂血症组的ε2等位基因有增高的趋势，而ε4等位基因有降低的趋势（P＞0．05），携带ε2等位基因组血清TG、apoⅡ,apoE水平及apoE/apoCⅢ比值较E3／3基因型组显著升高，而携带ε4等位基因组血清TC、nHDLC及apoE水平较E3／3基因型组显著升高（P＜0．001）。结论 ε2及ε4等位基因与Ⅱb型高脂蛋白血症患者的血清TG、TC、nHDL,apoCⅡ及apoE水平升高有关。

Study on apoE gene polymorphism in Chinese type II b hyperlipidemia]

OBJECTIVE: To study apolipoprotein(apo) E polymorphism and its relationship with plasma lipids and apolipoproteins levels in Chinese patients with type II b hyperlip oproteinemia. METHODS: apoE genotypes were assayed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method, serum lipids were determined by enzyme method, and apolipoproteins were measured by radial immunodiffusion assay in 74 type II b hyperlipidemia patients whose fasting serum lipids levels were TG > or = 2.26 mmol/L, TC > or = 6.21 mmol/L and in 230 healthy subjects whose fasting serum lipids levels were TG < 1.82 mmol/L, TC < 6.21 mmol/L from a population of Chinese Han nationality in Chengdu area. RESULTS: Compared with the control group, the serum TG, TC, LDLC, nHDLC, apoA II, apoB100, apoC II, apoC III, apoE levels and TG/HDLC ratio in patients with type II b hyperlipidemia were significantly increased(P < 0.001), and the serum HDLC levels and apoE/apoC III ratio were significantly decreased (P < 0.05). ApoE3/3 genotype and allele epsilon 3 frequency in type II b hyperlipidemia group and control group were both the highest. In type II b hyperlipidemia group, allele epsilon 2 frequency tended to increase and allele epsilon 4 frequency tended to decrease as compared with those in the control group (P > 0.05). In type II b hyperlipidemia group the genotype of apoE2 was associated with higher serum TG, apoC II, apoE levels and apoE/apoC III ratio when compared with the genotype of apoE3; the genotype of apoE4 was associated with higher serum TC, nHDLC and apoE levels when compared with the genotypes E3 and E2 (P < 0.001). CONCLUSION: The alleles epsilon 2 and epsilon 4 are associated with serum TG, TC, nHDLC, apoC II and apoE levels to some extent in type II b hyperlipide in Chinese population.