Article
The loss-of-function PCSK9 p.R46L genetic variant does not alter glucose homeostasis.
Diabetologia - 1 Sept 2015
Bonnefond Amélie, Yengo Loïc, Le May Cédric, Fumeron Fréderic, Marre Michel, Balkau Beverley, Charpentier Guillaume, Franc Sylvia, Froguel Philippe, Cariou Bertrand
Abstract excerpt
AIMS/HYPOTHESIS: Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a critical regulator of cholesterol homeostasis. PCSK9 inhibitors are being actively developed to lower LDL-cholesterol levels. However, there are conflicting data regarding the consequences of Pcsk9 deficiency on glucose homeostasis in mouse models. Here, we analysed in humans the association between the PCSK9 p.R46L loss-of-function (LOF)...
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