The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.

doi:10.1016/j.atherosclerosis.2024.118596

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Article

The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.

Atherosclerosis - 1 Dec 2024

Azar Yara, Ludwig Thomas E, Le Bon Hugo, Strøm Thea Bismo, Bluteau Olivier, Di-Filippo Mathilde, Carrié Alain, Chtioui Hedi, Béliard Sophie, Marmontel Oriane, Fonteille Annie, Gebhart Maite, Peretti Noël, Moulin Philippe, Ferrières Jean, Pradignac Alain, Farnier Michel, Gallo Antonio, Yelnik Cécile, Blom Dirk, Génin Emmanuelle, Bogsrud Martin Prøven, Leren Trond P, Boileau Catherine, Abifadel Marianne, Rabès Jean-Pierre, Varret Mathilde

Abstract excerpt

BACKGROUND AND AIMS: PCSK9 is a key regulator of LDL-cholesterol levels. PCSK9 gain of function variants (GOFVs) cause autosomal dominant hypercholesterolemia (ADH). The first described PCSK9-GOFV, p.Ser127Arg, almost exclusively reported in France, represents 67 % of the PCSK9 French GOFVs due to a founder effect. Few other carriers are reported in South Africa and Norway. This study aims to estimate when the...

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PMID: 39500114
DOI: 10.1016/j.atherosclerosis.2024.118596

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