肝脂酶启动子250G/A多态性与高密度脂蛋白胆固醇的关系  

Relationship of hepatic lipase gene promoter 250G/A polymorphism with high density lipoprotein cholesterol

作　　者：姜维洁[1] 应雅韵[2] 倪培华[2] 

机构地区：[1]上海中医药大学附属龙华医院检验科,上海200032 [2]上海交通大学医学院附属瑞金医院检验系,上海200025

出　　处：《诊断学理论与实践》2010年第3期242-246,共5页Journal of Diagnostics Concepts & Practice

摘　　要：目的:探讨肝脂酶(HL)基因启动子250G/A多态性与高密度脂蛋白胆固醇(HDL-C)间的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测203例高HDL-C者和156名HDL-C水平正常对照者的HL基因启动子250G/A多态性基因型,并探讨其与血脂水平的关系。结果:高HDL-C组该位点的基因型和等位基因频率分布与对照组相比,差异均有统计学意义(P<0.05)。GA型比GG型,比数比(OR)=1.1430,95%可信区间(95%CI):0.7246～1.8032;AA型比GG型,OR=2.3162,95%CI:1.1811～4.5422;A比G,OR=1.1436,95%CI:1.0169～1.2860。高HDL-C组GG型的三酰甘油(TG)、总胆固醇(TC)、HDL-C、非高密脂蛋白胆固醇(nonHDL-C)、低密度脂蛋白胆固醇(LDL-C)明显高于对照组GG型(P<0.05);高HDL-C组GA型的TG、TC、HDL-C、nonHDL-C明显高于对照组GA型(P<0.05);高HDL-C组AA型除载脂蛋白B100(ApoB100)外其他指标与对照组AA型相比,差异均有统计学意义(P<0.05),且TG、TC、HDL-C、nonHDL-C、LDL-C高于同组的GG型、GA型(P<0.05)。多元Logistic回归分析示TG、AA型与高HDL-C的发生有关(P<0.05),而LDL-C、ApoB100则与高HDL-C的发生呈负相关。结论:HL基因启动子250G/A多态性的AA型与高HDL-C水平相关。Objective To study the relationship between hepatic lipase gene promoter-250G/A polymorphism and high density lipoprotein cholesterol（HDL-C）.Methods The polymorphism of the hepatic lipase gene promoter-250G/A in 203 patients with elevated high density lipoprotein cholesterol and 156 control subjects were determined by using polymerase chain reaction-restricted fragments length polymorphism and its effect on serum lipid concentration was studied.Results Significant differences were found in the frequencies of the genotypes and the alleles between patients with elevated high density lipoprotein cholesterol and control subjects（P0.05）.GA vs GG,OR=1.1430,95%CI：0.72461.8032;AA vs GG,OR=2.3162,95% CI：1.1811-4.5422;A vs G,OR=1.1436,95%CI：1.0169-1.2860.Multiple stepwise regression analysis showed that TG and AA type had positive correlation with high HDL-C generation （P0.05）,while LDL-C,ApoB100 were negatively correlated with high HDL-C generation.Conclusions Hepatic lipase gene promoter-250G/A polymorphism AA type is correlated with the elevation of HDL-C level.

关 键 词：肝脂酶 基因多态性 高密度脂蛋白胆固醇 

分 类 号：R575.5[医药卫生—消化系统]