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.
- Jian Wang
- Matthew R Ban
- Robert A Hegele