Loss-Of-Function Mutations In Abca1, Hdl-Cholesterol, Metabolomic Profiles And Risk Of Vascular Disease And Dementia – A Cohort Study Of Up To 100,000 Individuals

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Background and Aims: The adenosine triphosphate-binding cassette transporter A1 (ABCA1) is a major cholesterol transporter highly expressed in liver and brain. ABCA1 mediates cholesterol and phospholipid efflux to lipid-poor apolipoproteins, and is essential for the biogenesis of high-density lipoprotein (HDL) cholesterol in the circulation and HDL-like particles in the brain. We therefore investigated the impact of two well-known HDL-deficiency loss-of-function mutations in ABCA1 on lipid levels, metabolomic profiles, and on risk of vascular disease and dementia.