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Updated: May 20, 2025

Cell-free Biochemical Fluorometric Enzymatic Assay for High-throughput Measurement of Lipid Peroxidation in High Density Lipoprotein
Published on: October 12, 2017
Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in
Mohammad Majharul Islam1, Max Tamlander2, Iryna Hlushchenko1
1Department of Anatomy, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Abstract:
Limited access to functional information of genetic variants reduces the applicability of genetic tools for precision medicine applications in cardiovascular disease. We established an automated analysis platform based on multiplexed high-content imaging and derived in-depth functional data for several hundred LDLR gene variants. Residual low-density lipoprotein receptor activity of genetic variants impacted the risk for cardiovascular disease and elevated low-density lipoprotein cholesterol as well as the utilization of lipid-lowering and combination therapy. This enables increased risk stratification for carriers of LDLR gene variants and opens up new opportunities for improved diagnosis, risk assessment, and treatment selection in familial hypercholesterolemia.
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