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Article

The contribution of PCSK9 levels to the phenotypic severity of familial hypercholesterolemia is independent of LDL receptor genotype.

Metabolism: clinical and experimental - 1 Nov 2015

Drouin-Chartier Jean-Philippe, Tremblay André J, Hogue Jean-Charles, Ooi Teik C, Lamarche Benoît, Couture Patrick

Abstract excerpt

UNLABELLED: Autosomal dominant familial hypercholesterolemia (FH) is caused by genetic mutations in the LDL receptor (LDLR), its ligand apolipoprotein (apo) B, or proprotein convertase subtilisin/kexin type 9 (PCSK9). Although PCSK9 levels have been shown to correlate with LDL-cholesterol (LDL-C) levels in FH, the extent to which PCSK9 levels modulate the phenotypic severity of this disease independent of LDLR...

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Share to PCSK9 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperlipoproteinemia Type II

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Source

Identifiers

PMID: 26371983
DOI: 10.1016/j.metabol.2015.08.007

Genes

PCSK9
LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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