The impact of partial and complete loss of function mutations in endothelial lipase on hdl levels and functionality in humans

Singaraja, Roshni R; Sivapalaratnam, Suthesh; Landmesser, Ulf; et al

doi:10.5167/uzh-69554

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Singaraja, R. R., Sivapalaratnam, S., Landmesser, U., & et al. (2013). The impact of partial and complete loss of function mutations in endothelial lipase on hdl levels and functionality in humans. Circulation. Cardiovascular Genetics, 6(1), 54–62. https://doi.org/10.1161/CIRCGENETICS.111.962613

Abstract

BACKGROUND: -Endothelial lipase is a phospholipase with activity against high density lipoprotein. Although a small number of mutations in LIPG have been described, the role of LIPG in protection against atherosclerosis is unclear. METHODS AND RESULTS: -We identified eight loss-of-function (LOF) mutations in LIPG in individuals with high HDL-C. Functional analysis confirmed that most rare mutations abolish lipase activity in vitro, indicating complete LOF (CLOF), while two more common mutations N396S and R476W reduce activity by ~50%,