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Article

Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participants.

Journal of medical genetics - 20 Apr 2026

Futema Marta, Bird Martin, Haeger Ash, Pinder Ellen, O'Rourke Anthony, Behr Elijah R, Humphries Steve E

Abstract excerpt

BACKGROUND: Heterozygous Familial Hypercholesterolaemia (HeFH) is caused by pathogenic variants in LDLR, APOB, APOE or PCSK9, leading to elevated low-density lipoprotein-cholesterol and increased cardiovascular risk. In the UK, HeFH affects ~1 in 288 individuals. The 100 000 Genomes Project (100KGP) generated whole genome sequencing (WGS) data from >85 000 participants recruited primarily with cancer or rare...

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Source

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Identifiers

PMID: 41667233
DOI: 10.1136/jmg-2025-111201
PMCID: PMC13151451

Genes

FH
APOB
APOE
LDLR
PCSK9

Provenance

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

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