Improvement of Definite Diagnosis of Familial Hypercholesterolemia Using an Expanding Genetic Analysis.

ABSTRACT:

Background

The deeper understanding of the complex hereditary basis of familial hypercholesterolemia (FH) has raised the rationale of genetic testing, which has been underutilized in clinical practice.

Objectives

The present study aimed to explore the variant spectrum of FH in an expanding manner and compare its diagnostic performance.

Methods

A total of 169 Chinese individuals (124 index cases and 45 relatives) with clinical definite/probable FH were consecutively enrolled. Next-generation sequencing was performed for genetic analysis of 9 genes associated with hypercholesterolemia (major genes: LDLR, APOB, and PCSK9; minor genes: LDLRAP1, LIPA, STAP1, APOE, ABCG5, and ABCG8) including the evaluations of small-scale variants and large-scal

SUBMITTER: Cao YX 

PROVIDER: S-EPMC9627923 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature