Use of low-density lipoprotein cholesterol gene score to demonstrate polygenic familial hypercholesterolemia: a case-control study.

Abstract

Background and Aims: Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused by mutations in LDLR, APOB, or PCSK9 in approximately 80% of the cases. Polygenic form is a plausible cause in mutation-negative FH patients based on LDL cholesterol (LDL-C)-associated single nucleotide polymorphisms (SNPs).