混合型高脂血症与肝脂酶基因启动子250G/A多态性的关系  

Interaction between hepatic fipase gene promoter 250G/A polymorphism and combined hyperfipidemia

作　　者：季慧峰[1] 倪培华[2] 胡晓波[1] 应雅韵[2] 张洁[3] 吴洁敏[2] 

机构地区：[1]上海交通大学医学院附属第三人民医院检验科,上海201900 [2]上海交通大学医学院附属瑞金医院检验系,上海200025 [3]上海交通大学医学院附属仁济医院检验科,上海200127

出　　处：《诊断学理论与实践》2007年第1期36-39,共4页Journal of Diagnostics Concepts & Practice

摘　　要：目的:探讨混合型高脂血症与肝脂酶基因启动子250G/A多态性的关系。方法:运用聚合酶链反应-限制性内切酶片段长度多态性技术,检测195名对照者和105例混合型高脂血症患者的肝脂酶(HL)基因启动子250G/A多态性,并研究其对血脂水平的影响。结果:混合型高脂血症组HL基因型和等位基因频率分布与对照组相比,均有显著差异(P＜0．05);GAvs GG,0R=1．446,95%CI:0．829～2．524;AA vs GG,OR=4．076,95% CI:2．068～8．035;A vs G, OR=1．978,95%CI:1．408～2．777。在混合型高脂血症组中除患者年龄和AA型载脂蛋白Al(Apo Al)水平外,其他基因型的各项指标均与对照组相同基因型有显著差异(P＜0．05)。混合型高脂血症组各基因型间的血脂指标均无差异(P＞0．05);而对照组AA型的TG水平明显高于GG型、GA型(P＜0．05),LDL-C水平则明显高于GG型(P＜0．05)。结论:HL基因启动子250G/A多态性与混合型高脂血症的发生相关,并可影响血浆脂类代谢。Objective To study the interaction between hepatic lipase gene -250G/A polymorphism and combined hyperlipidemia. Methods The genotypes of the hepatic lipase gene -250G/A were detected using polymerase chain reaction-restricted fragments length polymorphism technique in 105 patients with combined hyperlipidemia and 195 controls. The effect of the gene polymorphism on serum lipids was also studied. Results Significant difference was found in the frequencies of the genotypes and the alleles between the combined hyperlipidemia group and the control group （P〈0.05; GAvs GG, OR=1.446, 95%CI：0.829～2.524; AA vs GG,OR=4.076,95% CI：2.068～8.035 ;A vs G,OR=1.978,95%CI： 1.408～2.777）. In the combined hyperlipidemia group, each item showed significant difference comparing with that in the control group with the same genotype, except the age and Apo A1 in AA genotype （P〈0.05）. No significant difference was found in the serum lipids among the different genotypes in the combined hyperlipidemia group （P〉0.05）. In the control group, the TG level in AA genotype was higher than that in GG and GA genotypes（P〈0.05）, and the LDL-C level in AA genotype was also higher than that in GG genotype（P〈0.05）. Conclusions The hepatic lipase promoter 250G/A polymorphism is associated with the combined hyperlipidemia, and may influence the plasma lipoprotein metabolism.

关 键 词：混合型高脂血症 肝脂酶 启动子 基因多态性 

分 类 号：R541.4[医药卫生—心血管疾病]