ApoE基因型多态性与血脂水平相关性研究及风险评估  

Association between ApoE genotype polymorphism and blood lipid level and risk assessment

作　　者：莫巧璇[1] 黄声淳[1] 吕微风 MO Qiaoxuan;HUANG Shengchun;LYU Weifeng(Laboratory Medicine Center,Foshan Hospital of Traditional Chinese Medicine,Foshan,Guangdong 528000,China)

机构地区：[1]佛山市中医院检验医学中心,广东佛山528000

出　　处：《国际检验医学杂志》2021年第13期1593-1597,共5页International Journal of Laboratory Medicine

基　　金：广东省佛山市中医院“登峰计划”科研项目(202000205)。

摘　　要：目的调查佛山地区成人载脂蛋白E(ApoE)基因型多态性的分布特点,探讨不同年龄段成人ApoE基因型与血脂水平的关系,为动脉粥样硬化性心血管疾病(ASCVD)的风险评估提供科学依据。方法选取2016年7月至2020年1月在该院进行健康体检的883名参与者作为研究对象,采用PCR-荧光探针法对参与者的血液进行ApoE基因分型检测,采用全自动生化分析仪检测其血脂浓度等11项生化指标,对不同ApoE基因型、不同年龄段参与者血清总胆固醇(TC)、三酰甘油(TG)、高密度脂蛋白胆固醇(HDL-C)和低密度脂蛋白胆固醇(LDL-C)的水平进行相关性分析,并对其进行心血管疾病的发病风险评估。结果佛山地区2016-2020年健康人群血脂指标TC、TG、LDL-C水平比2013-2014年全国调查结果均有所增高,而HDL-C水平有所下降;ApoE基因型的分布频率由高到低依次为E3/E3、E2/E4、E3/E4、E2/E3、E2/E2、E4/E4,异构体表型的分布频率由高到低依次为E3、E4、E2;E4/E4、E3/E4、E3/E3基因型携带者TC和LDL水平较E2/E2、E2/E3、E2/E4基因型高,TC和LDL-C水平与ApoE基因型明显相关,且随年龄增长呈曲线升高;TG、HDL-C水平与ApoE基因型相关性不明显,但与性别明显相关。结论ApoE基因多态性可以作为ASCVD的风险评估依据,E2等位基因携带者患ASCVD的风险最低,E4等位基因携带者患ASCVD的风险最高,且以50~<60岁年龄段发病风险最高,男性发病风险高于女性。Objective To investigate the distribution characteristics of apolipoprotein E(ApoE)genotype polymorphism in adults in Foshan area,and to explore the relationship between ApoE genotypes and blood lipid levels in adults of different ages,so as to provide scientific basis for the risk assessment of atherosclerotic cardiovascular disease(ASCVD).Methods A total of 883 participants who underwent physical examination in the hospital from July 2016 to January 2020 were selected as the research subjects.The blood of the reference subjects was detected by PCR-fluorescent probe for ApoE genotyping,and 11 biochemical indexes such as blood lipid concentration were detected by automatic biochemical analyzer.Serum levels of serum total cholesterol(TC),triglyceride(TG),high-density lipoprotein cholesterol(HDL-C),and low-density lipoprotein cholesterol(LDL-C)were analyzed in different ApoE genotypes and age groups,and the risk of cardiovascular disease was assessed.Results Compared with the results of the national survey in 2013-2014,the levels of blood lipid indexes TC,TG,LDL-C of healthy people in Foshan area from 2016 to 2020 were all increased,while the level of HDL-C decreased.The distribution frequencies of ApoE genotype from high to low were E3/E3,E2/E4,E3/E4,E2/E3,E2/E2,E4/E4,and the distribution frequencies of isomer phenotypes from high to low were E3,E4,E2.The levels of TC and LDL-C in E4/E4,E3/E4 and E3/E3 genotypes were higher than those in E2/E2,E2/E3 and E2/E4 genotypes.The levels of TC and LDL-C were significantly correlated with ApoE genotypes,and showed a curve increase with age.TG and HDL-C levels were not significantly correlated with ApoE genotype,but were significantly correlated with gender.Conclusion ApoE gene polymorphism can be used as the basis for risk assessment of ASCVD.Carriers of E2 allele have the lowest risk of ASCVD.Carriers of E4 allele have the highest risk of ASCVD.

关 键 词：动脉粥样硬化性心血管疾病 载脂蛋白E 基因分型 血脂 风险评估 

分 类 号：R541.4[医药卫生—心血管疾病]