A loss-of-function variant in OSBPL1A predisposes to low plasma HDL cholesterol levels and impaired cholesterol efflux capacity.

doi:10.1016/j.atherosclerosis.2016.04.005

Article

A loss-of-function variant in OSBPL1A predisposes to low plasma HDL cholesterol levels and impaired cholesterol efflux capacity.

Atherosclerosis - 1 Jun 2016

Motazacker Mahdi M, Pirhonen Juho, van Capelleveen Julian C, Weber-Boyvat Marion, Kuivenhoven Jan Albert, Shah Saundarya, Hovingh G Kees, Metso Jari, Li Shiqian, Ikonen Elina, Jauhiainen Matti, Dallinga-Thie Geesje M, Olkkonen Vesa M

Abstract excerpt

BACKGROUND AND AIMS: Among subjects with high-density-lipoprotein cholesterol (HDL-C) below the 1st percentile in the general population, we identified a heterozygous variant OSBPL1A p.C39X encoding a short truncated protein fragment that co-segregated with low plasma HDL-C. METHODS: We investigated the composition and function of HDL from the carriers and non-carriers and studied the properties of the mutant...

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A loss-of-function variant in OSBPL1A predisposes to low plasma HDL cholesterol levels and impaired cholesterol efflux capacity.

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