Targeted sequencing of a gene panel in patients with Familial Hypercholesterolemia from Southern Poland

Abstract

In this study, we aimed to describe genetic background of familial hypercholesterolemia (FH), a common monogenic disorder leading to premature cardiovascular disease, in Malopolska population, using Next Generation Sequencing (NGS) method. We found pathogenic variants and polymorphisms in LDLR and APOB genes, and described variants in other genes associated with LDL-cholesterol levels, like APOE, ABCG5, ABCG8, LDLRAP1.We conclude, that NGS is an efficient and reliable method to screen the genetic background of lipid disorders and diagnose the patients.