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载脂蛋白E变异体的影响：天然存在的变异体与临床特征综述

Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.

作者信息

Matsunaga Akira, Saito Takao

机构信息

General Medical Research Center, Faculty of Medicine, Fukuoka University.

Sanko Clinic.

出版信息

J Atheroscler Thromb. 2025 Mar 1;32(3):281-303. doi: 10.5551/jat.65393. Epub 2025 Jan 8.

DOI:10.5551/jat.65393
PMID:39779225
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11883201/
Abstract

Apolipoprotein E (apoE) is a key apoprotein in lipid transport and is susceptible to genetic mutations. ApoE variants have been studied for four decades and more than a hundred of them have been reported. This paper presents an up-to-date review of the function and structure of apoE in lipid metabolism, the E2, E3, and E4 isoforms, the APOE gene, and various pathologies, such as familial type III hyperlipidemia and lipoprotein glomerulopathy, caused by apoE variants. Alzheimer's disease was barely mentioned in this paper. But this review should help researchers obtain a comprehensive overview of human apoE in lipid metabolism.

摘要

载脂蛋白E（apoE）是脂质转运中的关键载脂蛋白，易发生基因突变。对apoE变体的研究已有四十年，已报道了一百多种。本文对apoE在脂质代谢中的功能和结构、E2、E3和E4亚型、APOE基因以及由apoE变体引起的各种病理情况，如家族性III型高脂血症和脂蛋白肾小球病进行了最新综述。本文几乎未提及阿尔茨海默病。但这篇综述应有助于研究人员全面了解人类apoE在脂质代谢中的情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/70c1/11883201/a29adc1aa2bb/32_65393_5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/70c1/11883201/889fa5bc12e7/32_65393_1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/70c1/11883201/f0cae2da79ec/32_65393_2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/70c1/11883201/e9b63dd797d2/32_65393_3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/70c1/11883201/b089ff383e12/32_65393_4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/70c1/11883201/a29adc1aa2bb/32_65393_5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/70c1/11883201/889fa5bc12e7/32_65393_1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/70c1/11883201/f0cae2da79ec/32_65393_2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/70c1/11883201/e9b63dd797d2/32_65393_3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/70c1/11883201/b089ff383e12/32_65393_4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/70c1/11883201/a29adc1aa2bb/32_65393_5.jpg

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1
Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.载脂蛋白E变异体的影响：天然存在的变异体与临床特征综述
J Atheroscler Thromb. 2025 Mar 1;32(3):281-303. doi: 10.5551/jat.65393. Epub 2025 Jan 8.
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本文引用的文献

1
Lipoprotein glomerulopathy with a novel apolipoprotein E variant, APOE Kanto (Asp 151dup).伴有新型载脂蛋白E变异体（APOE关东型，Asp 151dup）的脂蛋白肾小球病。
CEN Case Rep. 2025 Apr;14(2):162-166. doi: 10.1007/s13730-024-00920-z. Epub 2024 Aug 14.
2
Genome-wide analysis identifies novel loci influencing plasma apolipoprotein E concentration and Alzheimer's disease risk.全基因组分析鉴定出影响血浆载脂蛋白 E 浓度和阿尔茨海默病风险的新位点。
Mol Psychiatry. 2023 Oct;28(10):4451-4462. doi: 10.1038/s41380-023-02170-4. Epub 2023 Sep 5.
3
Contribution of Genetic Variants to Dyslipidemia.
遗传变异对血脂异常的影响。
Arterioscler Thromb Vasc Biol. 2023 Jun;43(6):1066-1077. doi: 10.1161/ATVBAHA.123.318977. Epub 2023 Apr 13.
4
Investigation of the independent role of a rare APOE variant (L28P; APOE*4Pittsburgh) in late-onset Alzheimer disease.调查罕见 APOE 变异体（L28P；APOE*4Pittsburgh）在迟发性阿尔茨海默病中的独立作用。
Neurobiol Aging. 2023 Feb;122:107-111. doi: 10.1016/j.neurobiolaging.2022.11.007. Epub 2022 Nov 18.
5
Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka and Homozygous Apolipoprotein E2/2 without Dyslipidemia, with Characteristic Electron-Dense Deposits.伴有载脂蛋白E丰中町型及纯合子载脂蛋白E2/2且无血脂异常、具有特征性电子致密沉积物的膜性肾病样载脂蛋白E沉积病
Case Rep Nephrol Dial. 2022 Jun 10;12(2):96-104. doi: 10.1159/000525086. eCollection 2022 May-Aug.
6
Molecular Spectrum in a French Cohort with Primary Dyslipidemia.原发性血脂异常法国队列的分子谱。
Int J Mol Sci. 2022 May 21;23(10):5792. doi: 10.3390/ijms23105792.
7
An Updated Review and Meta Analysis of Lipoprotein Glomerulopathy.脂蛋白肾小球病的最新综述与荟萃分析
Front Med (Lausanne). 2022 May 6;9:905007. doi: 10.3389/fmed.2022.905007. eCollection 2022.
8
A novel apolipoprotein E mutation, ApoE Ganzhou (Arg43Cys), in a Chinese son and his father with lipoprotein glomerulopathy: two case reports.载脂蛋白 E 赣州突变（Arg43Cys）致脂蛋白肾小球病：两例父子病例报告
J Med Case Rep. 2022 Feb 23;16(1):78. doi: 10.1186/s13256-022-03302-0.
9
Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report.载脂蛋白 E 基因复合杂合突变致脂蛋白肾小球病 1 例报告。
Medicine (Baltimore). 2022 Feb 4;101(5):e28718. doi: 10.1097/MD.0000000000028718.
10
APOE gene variants in primary dyslipidemia.载脂蛋白 E 基因变异与原发性血脂异常。
Atherosclerosis. 2021 Jul;328:11-22. doi: 10.1016/j.atherosclerosis.2021.05.007. Epub 2021 May 23.