Loss-of-function mutations in APOC3, Triglycerides, and Coronary Disease


Crosby J*, Peloso GM,* Auer PL*, TG and HDL Working Group of the Exome Sequencing Project, National, Heart, Lung, and Blood Institute, Reiner AP*, Boerwinkle E*, Kathiresan S*.

In a large-scale population-based exome sequencing study for plasma lipids, we discovered that people who carry rare mutations that reduce the production of the APOC3 protein have very low levels of plasma triglycerides, along with a dramatically reduced risk for MI. These findings are analogous to the PCSK9 gene and set up APOC3 as a bona fide therapeutic target with compelling human genetics validation.

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