Article
The Arg282Ser missense mutation in APOA5 gene determines a reduction of triglyceride and LDL-cholesterol in children, together with low serum levels of apolipoprotein A-V.
Lipids in health and disease - 19 Sept 2017
Bertoccini Laura, Sentinelli Federica, Incani Michela, Bailetti Diego, Cimini Flavia Agata, Barchetta Ilaria, Cavallo Maria Gisella, Cossu Efisio, Lenzi Andrea, Loche Sandro, Baroni Marco Giorgio
Abstract excerpt
BACKGROUND: Apolipoprotein A-V (ApoA-V) is a recognized regulator of plasma triglycerides (TGs), and previous studies have shown associations between variants in APOA5 (apolipoprotein-A5) gene and high TG levels. Recently, a new association between the Arg282Ser missense mutation (rs778114184 G > T) in APOA5 gene and decreased triglyceride levels has been shown in an adult population from Sardinia. In this study...
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