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Article

Genetic Architecture of Familial Hypercholesterolaemia.

Current cardiology reports - 1 May 2017

Sharifi Mahtab, Futema Marta, Nair Devaki, Humphries Steve E

Abstract excerpt

PURPOSE OF REVIEW: Familial hypercholesterolaemia (FH) is an inherited disorder of low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol level from birth and a high risk of premature coronary heart disease. In this paper, we review the genetic basis of FH and its impact on the clinical presentation. RECENT FINDINGS: Mutations in any of three genes (LDLR, APOB and PCSK9) are...

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Share to Cholesterol, LDL
Share to Apolipoprotein B-100
Share to Genome-Wide Association Study

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperlipoproteinemia Type II

Share to Multifactorial Inheritance

Share to Mutation

Share to Proprotein Convertase 9

Share to Receptors, LDL

Source

Open in PubMed Open full text

Identifiers

PMID: 28405938
DOI: 10.1007/s11886-017-0848-8
PMCID: PMC5389990

Genes

APOB
LDLR
PCSK9

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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