Variations cause the loss of endothelial lipase activity, according to study in JCI.
Mutations in the endothelial lipase gene (LIPG) result in high plasma HDL-C levels, according to scientists at the University of Pennsylvania. They determined that the increased plasma HDL-C levels are created because the mutations in LIPG cause loss of endothelial lipase activity.
Therefore inhibition of endothelial lipase is likely to raise HDL-C levels in humans, the researchers suggest. They caution, however, that further study is required to find out whether the resulting increase would impact cardiovascular health.
The authors examined LIPG in 585 subjects of European ancestry and identified 10 people with previously unreported rare mutated forms of this gene that were unique to subjects with very high HDL-C levels.
The article appeared online March 16 in the Journal of Clinical Investigation.