[Genetic basis of primary hypertriglyceridemia].

Abstract excerpt

Rare monogenic and severe hypertriglyceridemia usually results from genetic abnormalities that lead to severely reduced activity of lipoprotein lipase (LPL), a crucial player in the hydrolysis of triglyceride(TG)-rich lipoproteins. These include mutations in the genes for LPL, APOC2, GPIHBP1, LMF1 and APOA5. On the other hand, recent results from genome-wide association studies(GWAS) or resequencing studies have...

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