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APOE gene variants in primary dyslipidemia.
Khalil, Yara Abou; Rabès, Jean-Pierre; Boileau, Catherine; Varret, Mathilde.
Afiliación
  • Khalil YA; Laboratory for Vascular Translational Science (LVTS), INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, Paris, France; Université de Paris, Paris, France; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie- Santé (PTS), Saint-Joseph Universi
  • Rabès JP; Laboratory for Vascular Translational Science (LVTS), INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, Paris, France; Laboratory of Biochemistry and Molecular Genetics, Centre Hospitalo-Universitaire Ambroise Paré, HUPIFO, AP-HP. Paris-Saclay, Boulogne-Billancourt, France; UFR Simone Veil
  • Boileau C; Laboratory for Vascular Translational Science (LVTS), INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, Paris, France; Université de Paris, Paris, France; Genetics Department, AP-HP, CHU Xavier Bichat, Paris, France.
  • Varret M; Laboratory for Vascular Translational Science (LVTS), INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, Paris, France; Université de Paris, Paris, France. Electronic address: mathilde.varret@inserm.fr.
Atherosclerosis ; 328: 11-22, 2021 07.
Article en En | MEDLINE | ID: mdl-34058468
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Dislipidemias / Hiperlipoproteinemia Tipo II Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Atherosclerosis Año: 2021 Tipo del documento: Article Pais de publicación: Irlanda
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Dislipidemias / Hiperlipoproteinemia Tipo II Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Atherosclerosis Año: 2021 Tipo del documento: Article Pais de publicación: Irlanda