Ontology highlight
ABSTRACT:
SUBMITTER: Edmondson AC
PROVIDER: S-EPMC2662558 | biostudies-literature | 2009 Apr
REPOSITORIES: biostudies-literature
Edmondson Andrew C AC Brown Robert J RJ Kathiresan Sekar S Cupples L Adrienne LA Demissie Serkalem S Manning Alisa Knodle AK Jensen Majken K MK Rimm Eric B EB Wang Jian J Rodrigues Amrith A Bamba Vaneeta V Khetarpal Sumeet A SA Wolfe Megan L ML Derohannessian Stephanie S Li Mingyao M Reilly Muredach P MP Aberle Jens J Evans David D Hegele Robert A RA Rader Daniel J DJ
The Journal of clinical investigation 20090316 4
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 mutations in LIPG may result in elevated HDL-C and therefore performed deep resequencing of ...[more]