Association-based human genetic studies have provided evidence that variations in the EL genomic LIPG
locus such as T111I, G26S, and N396S are linked to differences in circulating HDL-C concentrations or CVD (17-21), although recent studies with a large number of subjects have established associations between LIPG
single-nucleotide polymorphism and HDL-C concentrations, but none with CVD (21-23).
Lead researcher Daniel Rader has identified a gene called LIPG, which when mutated result in high plasma HDL-C levels.
Further analysis revealed that mutations in the LIPG gene that cause loss of endothelial lipase activity were the cause of increased plasma HDL-C levels.