The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.

  title={The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.},
  author={Robert A Hegele and Henry N. Ginsberg and Martin John Chapman and B\orge G. Nordestgaard and Jan A. Kuivenhoven and Maurizio Rocco Averna and Jan Bor{\'e}n and Eric Bruckert and Alberico L. Catapano and Olivier Descamps and G. K. Hovingh and Steve E Humphries and Petri T. Kovanen and Llu{\'i}s Masana and P{\"a}ivi Pajukanta and Klaus Georg Parhofer and Frederick Johan Raal and Kausik K Ray and Raul D Santos and Anton F. H. Stalenhoef and Erik Stroes and Marja-Riitta Taskinen and Anne Tybj{\ae}rg-Hansen and Gerald F. M. Watts and Olov Wiklund},
  journal={The lancet. Diabetes & endocrinology},
  volume={2 8},
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 mutations in six different genes. Hypertriglyceridaemia is exacerbated by non-genetic… CONTINUE READING
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Effi cacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia : a single - arm , open - label , phase 3 study

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