Article
Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biology - 1 Jul 2023
Marmontel Oriane, Abou-Khalil Yara, Bluteau Olivier, Cariou Bertrand, Carreau Valérie, Charrière Sybil, Divry Eléonore, Gallo Antonio, Moulin Philippe, Paillard François, Peretti Noel, Rabès Jean-Pierre, Varret Mathilde, Carrié Alain, Di Filippo Mathilde
Abstract excerpt
BACKGROUND: Autosomal dominant hypercholesterolemia (ADH) is due to deleterious variants in LDLR, APOB, or PCSK9 genes. Double heterozygote for these genes induces a more severe phenotype. More recently, a new causative variant of heterozygous ADH was identified in APOE. Here we study the phenotype of 21 adult patients, double heterozygotes for rare LDLR and rare APOE variants (LDLR+APOE) in a national wide...
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