Rare Variant APOC3 R19X Is Associated with Cardio-ProtectiveProfiles in a Diverse Population-Based Survey as Part of the Epidemiologic Architecturefor Genes Linked to Environment (EAGLE) Study

摘要

BackgroundA founder mutation was recently discovered and described as conferring favorable lipid profiles and reduced subclinical atherosclerotic disease in a Pennsylvania Amish population. Preliminary data have suggested that this null mutation APOC3 R19X (rs76353203) is rare in the general population.