Article
Rare variant APOC3 R19X is associated with cardio-protective profiles in a diverse population-based survey as part of the Epidemiologic Architecture for Genes Linked to Environment Study.
Circulation. Cardiovascular genetics - 1 Dec 2014
Crawford Dana C, Dumitrescu Logan, Goodloe Robert, Brown-Gentry Kristin, Boston Jonathan, McClellan Bob, Sutcliffe Cara, Wiseman Rachel, Baker Paxton, Pericak-Vance Margaret A, Scott William K, Allen Melissa, Mayo Ping, Schnetz-Boutaud Nathalie, Dilks Holli H, Haines Jonathan L, Pollin Toni I
Abstract excerpt
BACKGROUND: A 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. METHODS AND RESULTS: To better describe the frequency and lipid profile in the general population, we as part...
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