Abstract

Background and Aims : Familial Hypercholesterolemia (FH) is a monogenic, common autosomal disorder of lipid metabolism. Genetic diagnosis includes the study of 3 genes: LDLR, APOB, PCSK9, but 50-60% of clinical FH patients present a negative result. The present work aims determine if the cause of hypercholesterolemia in FH negative individuals can be explained by a polygenic contribution and compare three different LDL-C genetic risk score (GRS) in clinical FH patients.

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