Investigation of LDLR Gene Mutations in Turkish Patients with Familial Hypercholesterolemia

摘要

Familial hypercholesterolemia (FH) is characterized by severely elevated LDL cholesterol (LDL-C) levels that lead to an increased risk for cardiovascular disease. An estimated 70%-95% of FH results from a heterozygous pathogenic variant in one of three genes (APOB, LDLR, PCSK9). Many people have mutations in the LDLR (low-density lipoprotein receptor) gene that encodes the LDL receptor protein, which normally removes LDL from the circulation. The aim of our study was to examine the genetic background of Turkish patients suspected of FH.In this study, we characterize the spectrum of mutations causing FH in 40 Turkish probands suspected to have FH. Next-generation sequencing was performed in all subjects for LDLR gene.