肝脂酶基因-763A／G多态性与混合型高脂血症的关系

目的探讨混合型高脂血症（CHL）与肝脂酶（HL）基因启动子763A／G多态性的关系。方法运用聚合酶链反应一限制性内切酶片段长度多态性技术（RCR—RFLP），对219名对照者和218例CHL患者的HL基因启动子763A／G多态性进行检测，并研究其对血脂水平的影响。结果总研究组的HL-763A／G多态性的AA、AG和GG基因型频率分别为0．3155、0．4936、0．1908；A、G等位基因频率分别为0．5623、0．4377。在CHL组中除年龄、高密度脂蛋白胆固醇（HDL—C）、载脂蛋白A—I（apoA—I），AA型的低密度脂蛋白胆固醇（LDL—C）、载脂蛋白B（apoB）及GG型的apoA～I水平外，其余指标均与对照组同基因型之间差异有统计学意义（P〈0．05）；GG型的年龄明显低于AA型（P〈0．05），apoA—I水平明显高于AA型（P〈0．05），而apoA—I及apoA—I／apoB水平明显高于AG型（P〈0．05）。在CHL男性组中，除AA型HDL—C、GG型HDL—C、apoA—I水平外，其余血脂水平均高于对照男性组（P〈0．05），同样，在CHL女性组中，除GG型的HDL—C、apoA—I、非高密度脂蛋白胆固醇（nonHDL—C）、apoB水平外，其余血脂水平均高于对照女性组（P〈0．05）。而CHL女性组GG型的apoA—I水平明显高于AA型（P〈0．05）。结论HL启动子763A／G多态性与CHL的发生相关，并可影响血浆的脂类代谢。

The correlation between hepatic lipase gene -763A/G polymorphism and combined hyperlipidemia

Objective To explore the correlation between combined hyperlipidemia (CHL) and hepatic lipase (HL) gene promoter 763A/G polymorphism. Methods HL gene promoter 763A/G polymorphism was detected by polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) technique in 219 controls and 218 cases of patients with CHL, and its influence on blood lipid levels was analyzed. Results In the total study group of HL-763A/G polymorphism, the frequencies of the genotype AA, AG and GG were 0.315 5,0.493 6,0.190 8, and the frequencies of allele A and G were 0.562 3 and 0.437 7. In the CHL group, except age, high-density lipoprotein cholesterol (HDL-C), apolipoprotein A-Ⅰ (apo A-Ⅰ), AA type low-density lipoprotein cholesterol (LDL-C), apolipoprotein B (apo B) and GG type of apo A-Ⅰ levels, other indicators had statistical significance with the control group between genotypes (P<0.05). The age in GG type was significantly lower than that in AA type(P<0.05), and apo A-Ⅰ levels were significantly higher than those of AA type(P<0.05), while the levels of apo A-Ⅰ and apo A-Ⅰ/apo B were significantly higher than those of AG type (P<0.05). In the CHL male group, except HDL-C of AA type, HDL-C of GG type and apo A-Ⅰ levels, the levels of other lipids were higher than those in the control male group (P<0.05). In the CHL female group, except HDL-C, apo A-Ⅰ, non-high-density lipoprotein cholesterol (nonHDL-C), apo B levels of GG type, the other levels of lipids were higher than those in the control female group (P<0.05). In the CHL female group, the levels of apo A-Ⅰ of GG type were significantly higher than those of the AA type (P<0.05). Conclusions HL promoter 763A/G polymorphism has the relationship with the occurrence of CHL, and may influence plasma lipid metabolism.