| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8315866 | Clinica Chimica Acta | 2011 | 5 Pages |
Abstract
⺠Common variants of APOA5 gene affect plasma triglyceride (TG) in the population. ⺠Rare variants of APOA5 were found in subjects with severe hypertriglyceridemia (HTG). ⺠APOA5 gene was sequenced in 98 HTG patients negative for mutations in LPL and APOC2. ⺠Two patients were heterozygous for two novel APOA5 variants (p.L253P and p.E99 del). ⺠The variants predispose to HTG in addition with other genetic or nutritional factors.
Keywords
APOC2GPIHBP1HTGApolipoprotein A-VApolipoprotein CIIIAPOA5APOC3VLDLLPLApo A-ILMF1HDL-CIMTSNPsAPOA5 geneLipase maturation factor 1apo BApoeApolipoprotein A-IApolipoprotein Bapolipoprotein C-IIapolipoprotein ETriglyceridesIntima-media thicknessLipoprotein lipasevery-low-density lipoproteinhigh-density lipoprotein cholesterolvery low-density lipoproteinsSingle nucleotide polymorphismstotal cholesterol
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Authors
Livia Pisciotta, Raffaele Fresa, Antonella Bellocchio, Virgilia Guido, Claudio Priore Oliva, Sebastiano Calandra, Stefano Bertolini,