New cardiovascular disease markers in patients with familial hypercholesterolemia carriers of genetic variants.

ABSTRACT:

Objectives

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease characterized by elevated levels of low-density lipoprotein cholesterol (LDLc). The early diagnosis of FH can reduce unfavorable outcomes in this population, but genetic study is not available in all populations. This study aimed to evaluate new cardiovascular plasma markers (GDF-15, CXCL16, FABP3, FABP4, LIGHT, sCD14, ucMGP), as well as Lp(a) levels, in individuals genetically characterized for FH, classified according to treatment with statins.

Methods

Sequencing was performed by next generation sequencing (NGS) for 17 ICs and by the Sanger method for 120 relatives. Lp(a) was measured by turbidimetry and the other cardiovascular markers by the multiplex method for Luminex^®. St

SUBMITTER: de Paiva Silvino JP 

PROVIDER: S-EPMC11649891 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature