Identification and Functional Analysis of APOB Variants in a Cohort of Hypercholesterolemic Patients.

ABSTRACT: Mutations in APOB are the second most frequent cause of familial hypercholesterolemia (FH). APOB is highly polymorphic, and many variants are benign or of uncertain significance, so functional analysis is necessary to ascertain their pathogenicity. Our aim was to identify and characterize APOB variants in patients with hypercholesterolemia. Index patients (n = 825) with clinically suspected FH were analyzed using next-generation sequencing. In total, 40% of the patients presented a variant in LDLR, APOB, PCSK9 or LDLRAP1, with 12% of the variants in APOB. These variants showed frequencies in the general population lower than 0.5% and were classified as damaging and/or probably damaging by 3 or more predictors of pathogenicity.

SUBMITTER: Rodriguez-Jimenez C 

PROVIDER: S-EPMC10142790 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature