GPIHBP1 VARIANTS CONTRIBUTE TO LIPID LEVELS IN FAMILIAL COMBINED HYPERLIPIDEMIA

Abstract

Familial combined hyperlipidemia (FCHL) is a complex genetic disorder, which predisposes to premature atherosclerosis. In mice, deficiency of glycosylphosphatidylinositol (GPI)-anchored high-density lipoprotein-binding protein (GPIHBP1) causes severe chylomicronemia. GPIHBP1 binds lipoprotein lipase and triglyceride-rich lipoproteins on the luminal surface of endothelial cells. Data examining the role of GPIHBP1 variation in human dyslipidemia are sparse. We therefore performed re-sequencing and association analyses to determine the contribution of GPIHBP1 variation to the aetiology of FCHL in white-British families.