[Genetic basis of primary hypertriglyceridemia]

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 revealed that common polygenic and mild hypertriglyceridemia results from accumulation of both common as well as rare risk variants under the influence of classical environmental conditions. Interestingly, some primary hyperlipoproteinemiae appear to share a common genetic basis, providing a recent interesting and unique hypothesis. Genetic analysis also could provide novel candidates for therapeutic targets and fundamental basis of establishment of more rational genetic risk scoring for hypertriglyceridemia.