APOE gene variants in primary dyslipidemia

Khalil, Yara Abou; Rabès, Jean-Pierre; Boileau, Catherine; Varret, Mathilde

doi:10.1016/j.atherosclerosis.2021.05.007

Cited by 170Lipoproteins and Cardiovascular HealthLipid metabolism and disordersDiabetes, Cardiovascular Risks, and Lipoproteins

APOE gene variants in primary dyslipidemia

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Khalil, Yara Abou, Rabès, Jean-Pierre, Boileau, Catherine, Varret, Mathilde·2021·Atherosclerosis

DOI 10.1016/j.atherosclerosis.2021.05.007

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Abstract

Apolipoprotein E (apoE) is a major apolipoprotein involved in lipoprotein metabolism. It is a polymorphic protein and different isoforms are associated with variations in lipid and lipoprotein levels and thus cardiovascular risk. The isoform apoE4 is associated with an increase in LDL-cholesterol levels and thus a higher cardiovascular risk compared to apoE3. Whereas, apoE2 is associated with a mild decrease in LDL-cholesterol levels. In the presence of other risk factors, apoE2 homozygotes could develop type III hyperlipoproteinemia (familial dysbetalipoproteinemia or FD), an atherogenic disorder characterized by an accumulation of remnants of triglyceride-rich lipoproteins. Several rare APOE gene variants were reported in different types of dyslipidemias including FD, familial combined hyperlipidemia (FCH), lipoprotein glomerulopathy and bona fide autosomal dominant hypercholesterolemia (ADH). ADH is characterized by elevated LDL-cholesterol levels leading to coronary heart disease, and due to molecular alterations in three main genes: LDLR, APOB and PCSK9. The identification of the APOE-p.Leu167del variant as the causative molecular element in two different ADH families, paved the way to considering APOE as a candidate gene for ADH. Due to non mendelian interacting factors, common genetic and environmental factors and perhaps epigenetics, clinical presentation of lipid disorders associated with APOE variants often strongly overlap. More studies are needed to determine the spectrum of APOE implication in each of the diseases, notably ADH, in order to improve clinical and genetic diagnosis, prognosis and patient management. The purpose of this review is to comment on these APOE variants and on the molecular and clinical overlaps between dyslipidemias.

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To date, only about 30 APOE variants associated with autosomal dominant FD have been reported.
“To date, only about 30 APOE variants associated with autosomal dominant FD have been reported [29,30].”
From Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia (2024) · cites this paper as [29]
p.Glu230Lys was classified as likely pathogenic for FD.
“One of them, p.Glu230Lys, was classified as likely pathogenic for FD in the current study.”
From Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia (2024) · cites this paper as [29]
p.Arg154Cys is located in the critical APOE domain and alters the amino acid residue in which another variant, p.Arg154Ser, was found to be likely pathogenic for FD.
“This variant is located in the critical APOE domain [45,46] and alters the amino acid residue, in which another variant, p.Arg154Ser, was found to be likely pathogenic for FD [5,29,47].”
From Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia (2024) · cites this paper as [29]
p.Glu230Lys was previously observed in patients with familial combined hyperlipidemia.
“p.Glu230Lys, previously observed in patients with familial combined hyperlipidemia [29], was classified as likely pathogenic for FD in the current report.”
From Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia (2024) · cites this paper as [29]
Some rare APOE variants that cause familial type III HLP were found to exhibit a dominant mode of inheritance.
“Some of these rare APOE variants that cause familial type III HLP were found to exhibit a dominant mode of inheritance45, 46).”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [46]

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Mahley RW, Rall JSC. Chapter 119: Type III hyperlipoproteinemia (dysbetalipoproteinemia): the role of apolipoprotein E in normal and abnormal lipoprotein metabolism. In: Scriver R, Beaudet AL, Sly WS, et al, editors 2001;Metabolic and Molecular Base of Inherited Disease:New York: McGraw-Hil. https://doi.org/10.1036/ommbid.148. · DOI
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“19,21 While this feature may relate to type III hyperlipoproteinemia observed in 1%–10% of APOE2 homozygotes, 22 it has been underappreciated as a potential (legend continued on next page) protective mechanism for LOAD, despite the fact LDLR is a key receptor for lipidated ApoE (lipApoE) in the…”
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Contribution of APOE Genetic Variants to Dyslipidemia
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Sanz, A. M. B., Lamiquiz-Moneo, I., Martı́n, C., Mateo‐Gállego, R., Cenarro, A., & Civeira, F. (2018) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2018.06.565

Authors: Khalil, Y. A., Rabès, J.-P., Boileau, C., & Varret, M.
Affiliations: Inserm (FR)
Corresponding author: Varret, Mathilde
ORCID: Khalil, Yara Abou
Rabès, Jean-Pierre
Boileau, Catherine
Varret, Mathilde
Venue: Atherosclerosis
Publisher: Elsevier BV
Published: 2021-07
Volume: 328
Pages: 11-22
ISSN: 0021-9150 (ISSN-L)
DOI: 10.1016/j.atherosclerosis.2021.05.007
OpenAlex: W3164961612
Cited by: 170
References: 128
Citations by year: 2026: 37 · 2025: 33 · 2024: 37 · 2023: 36 · 2022: 24 · 2021: 3
FWCI: 6.02
Type: journal article
Language: en
Update notices: erratum (2023-12-01)
Open access: hybrid
doi.org
Licence: cc-by-nc-nd
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
creativecommons.org/licenses/by-nc-nd/4.0/ (vor)
Locations: Atherosclerosis (publishedVersion, cc-by-nc-nd)
PubMed (publishedVersion)
HAL (submittedVersion, cc-by-nd)
Funders: Universite Saint-Joseph
INSERM
Leducq Foundation
Agence Nationale de la Recherche (ANR-16-RHUS-0007)
Conseil National de la Recherche Scientifique
Topics: Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
Keywords: apolipoprotein E, primary dyslipidemia, familial dysbetalipoproteinemia, type III hyperlipoproteinemia, familial combined hyperlipidemia, lipoprotein glomerulopathy, autosomal dominant hypercholesterolemia, LDL cholesterol, APOE ε4, APOE2, cardiovascular risk, genetic diagnosis, epigenetics
MeSH terms: Proprotein Convertase 9, Apolipoproteins E, Humans, Hyperlipoproteinemia Type II, Receptors, LDL, Dyslipidemias

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