Metabolic Characterization of a Rare Genetic Variation Within APOC3 and Its Lipoprotein Lipase–Independent Effects | Zendy

Fotios Drenos | Zendy; George Davey Smith | Zendy; Mika AlaKorpela | Zendy; Johannes Kettunen | Zendy; Peter Würtz | Zendy; Pasi Soininen | Zendy; Antti J. Kangas | Zendy; Caroline Dale | Zendy; Debbie A. Lawlor | Zendy; Tom R. Gaunt | Zendy; Juan-Pablo Casas | Zendy; Nicholas J. Timpson | Zendy

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Metabolic Characterization of a Rare Genetic Variation Within APOC3 and Its Lipoprotein Lipase–Independent Effects

Author(s) -

Fotios Drenos,

George Davey Smith,

Mika AlaKorpela,

Johannes Kettunen,

Peter Würtz,

Pasi Soininen,

Antti J. Kangas,

Caroline Dale,

Debbie A. Lawlor,

Tom R. Gaunt,

Juan-Pablo Casas,

Nicholas J. Timpson

Publication year - 2016

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.115.001302

Subject(s) - lipoprotein lipase , genetic variation , lipase , variation (astronomy) , chemistry , genetics , biochemistry , biology , enzyme , gene , physics , astrophysics

Plasma triglyceride levels have been implicated in atherosclerosis and coronary heart disease. Apolipoprotein C-III (APOC3) plays a key role in the hydrolysis of triglyceride-rich lipoproteins to remnant particles by lipoprotein lipase (LPL) and their uptake by the liver. A rare variant in APOC3(rs138326449) has been associated with triglyceride, very low-density lipoprotein, and high-density lipoprotein levels, as well as risk of coronary heart disease. We aimed to characterize the impact of this locus across a broad set of mainly lipids-focused metabolic measures.

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