Article
Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans.
The Journal of clinical investigation - 1 Apr 2009
Edmondson Andrew C, Brown Robert J, Kathiresan Sekar, Cupples L Adrienne, Demissie Serkalem, Manning Alisa Knodle, Jensen Majken K, Rimm Eric B, Wang Jian, Rodrigues Amrith, Bamba Vaneeta, Khetarpal Sumeet A, Wolfe Megan L, Derohannessian Stephanie, Li Mingyao, Reilly Muredach P, Aberle Jens, Evans David, Hegele Robert A, Rader Daniel J
Abstract excerpt
Elevated plasma concentrations of HDL cholesterol (HDL-C) are associated with protection from atherosclerotic cardiovascular disease. Animal models indicate that decreased expression of endothelial lipase (LIPG) is inversely associated with HDL-C levels, and genome-wide association studies have identified LIPG variants as being associated with HDL-C levels in humans. We hypothesized that loss-of-function...
Topics
- Adult
- Aged
- Amino Acid Substitution
- Animals
- Atherosclerosis
- Cholesterol, HDL
- Cohort Studies
- Cross-Sectional Studies
- Exons