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Article

Genetic Determinants of the Familial Hypercholesterolaemia Phenotype.

Annals of human genetics - 1 Sept 2025

Humphries Steve Eric, Futema Marta

Abstract excerpt

Individuals with familial hypercholesterolaemia (FH) have severely elevated plasma concentrations of low-density lipoprotein cholesterol (LDL-C) from birth and as a consequence have an elevated morbidity and mortality due to the development of coronary heart disease (CHD). Monogenic FH can be caused by carrying a single copy of a pathogenic variant in any of four genes (LDLR/APOB/PCSK9/APOE), which are all...

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

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Share to Hyperlipoproteinemia Type II

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Share to Proprotein Convertase 9

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Source

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Identifiers

PMID: 40171628
DOI: 10.1111/ahg.12594
PMCID: PMC12336941

Genes

FH
APOB
APOE
LDLR
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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