Article
The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.
The lancet. Diabetes & endocrinology - 1 Aug 2014
Hegele Robert A, Ginsberg Henry N, Chapman M John, Nordestgaard Børge G, Kuivenhoven Jan Albert, Averna Maurizio, Borén Jan, Bruckert Eric, Catapano Alberico L, Descamps Olivier S, Hovingh G Kees, Humphries Steve E, Kovanen Petri T, Masana Luis, Pajukanta Päivi, Parhofer Klaus G, Raal Frederick J, Ray Kausik K, Santos Raul D, Stalenhoef Anton F H, Stroes Erik, Taskinen Marja-Riitta, Tybjærg-Hansen Anne, Watts Gerald F, Wiklund Olov
Abstract excerpt
Plasma triglyceride concentration is a biomarker for circulating triglyceride-rich lipoproteins and their metabolic remnants. Common mild-to-moderate hypertriglyceridaemia is typically multigenic, and results from the cumulative burden of common and rare variants in more than 30 genes, as quantified by genetic risk scores. Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-effect...
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