APOA5 genetic variants are markers for classic hyperlipoproteinemia phenotypes and hypertriglyceridemia

Several known candidate gene variants are useful markers for diagnosing hyperlipoproteinemia. In this paper the authors evaluate the association of two commonAPOA5 single-nucleotide polymorphisms across the range of classic hyperlipoproteinemia phenotypes. Their data shows that a high proportion of patients with four classic hyperlipoproteinemia phenotypes are carriers of either the APOA5S19W or −1131T>C variant or both. The authors conclude that these two variants are robust genetic biomarkers of a range of clinical hyperlipoproteinemia phenotypes linked by hypertriglyceridemia.