Abstract

Background and Aims: A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH) but without a disease-causing mutation are likely to have a polygenic cause for their hypercholesterolemia. This study aimed at evaluating the distribution of a polygenic risk score, comprised of 12 LDL cholesterol (LDL-C) raising variants (LDLc-score), in subjects clinically diagnosed with FH.

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