载脂蛋白E基因多态性的病理生理学功能及分子机制  

Pathophysiological functions and molecular mechanisms of apolipoprotein E gene polymorphism

作　　者：王玥 阿合拉·哈力别克 司文喆 WANG Yue;Ahela HALIBIEKE;SI Wenzhe(Department of Laboratory,Peking University Third Hospital,Beijing 100191;Department of Biochemistry and Molecular Biology,Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences,School of Basic Medicine,Peking Union Medical College,Beijing 100730;Peking University State Key Laboratory of Vascular Homeostasis and Remodeling,Beijing 100191,China)

机构地区：[1]北京大学第三医院检验科,北京100191 [2]中国医学科学院基础医学研究所,北京协和医学院基础学院生物化学与分子生物学系,北京100730 [3]北京大学血管稳态与重构全国重点实验室,北京100191

出　　处：《临床与病理杂志》2024年第10期1448-1457,共10页Journal of Clinical and Pathological Research

基　　金：国家自然科学基金(82303063);北京市科技新星计划(20220484090,20230484442);北京市自然科学基金(7232206);北京市卫生健康委员会优促计划赋能项目(YC202301QX0087)。

摘　　要：载脂蛋白E(apolipoprotein E,ApoE)作为一种多功能蛋白质,在脂蛋白代谢中起着至关重要的作用。ApoE不同基因型对脂蛋白的亲和力不同,其多态性会影响脂蛋白水平。多项研究证实,ApoE在脂代谢、心脑血管疾病、阿尔茨海默病、慢性肾病、糖尿病、多发性硬化及多种肿瘤中发挥作用,不同基因型可能表现出不同甚至相反的功能,且血清ApoE水平可随多种疾病的发展进程呈趋势性变化。探究ApoE基因多态性及血清水平与疾病发生、发展之间的关联与作用可为疾病的早期发现、及时干预、动态监测及精准治疗提供更多的理论依据。Apolipoprotein E(ApoE),a multifunctional protein,plays a crucial role in lipoprotein metabolism.Different ApoE genotypes exhibit varying affinities for lipoproteins,and its polymorphism can affect lipoprotein levels.Numerous studies have confirmed that ApoE is involved in lipid metabolism,cardiovascular and cerebrovascular diseases,Alzheimer’s disease,chronic kidney disease,diabetes,multiple sclerosis,and various cancers.Different genotypes may display distinct or even opposite functions,and serum ApoE levels tend to change progressively with the development of these diseases.Investigating the association and roles of ApoE gene polymorphism and serum levels in disease occurrence and progression can provide further theoretical evidence for early detection,timely intervention,dynamic monitoring,and precision treatment.

关 键 词：载脂蛋白E 基因多态性 脂代谢 心脑血管疾病 阿尔茨海默病 糖尿病 肿瘤 

分 类 号：R74[医药卫生—神经病学与精神病学]