Variants in LPA are associated with familial hypercholesterolaemia: whole genome sequencing analysis in the 100 000 Genomes Project.

doi:10.1093/eurjpc/zwae371

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Article

Variants in LPA are associated with familial hypercholesterolaemia: whole genome sequencing analysis in the 100 000 Genomes Project.

European journal of preventive cardiology - 18 Feb 2026

Bird Martin, Rimbert Antoine, Pittman Alan Michael, Humphries Steve Eric, Futema Marta

Abstract excerpt

AIMS: Familial hypercholesterolaemia (FH) is an inherited disease of high LDL cholesterol (LDL-C) caused by defects in LDLR, APOB, APOE, and PCSK9 genes. A pathogenic variant cannot be found in ∼60% of clinical FH patients. Using whole genome sequencing (WGS), we examined genetic determinants of FH. METHODS AND RESULTS: Whole genome sequencing data generated by the 100 000 Genomes Project (100KGP) included 536 FH...

Topics

Humans
Lipoprotein(a)
Hyperlipoproteinemia Type II
Female
Male
Genome-Wide Association Study
Whole Genome Sequencing
Genetic Predisposition to Disease
Middle Aged
Cholesterol, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Adult

Phenotype

Case-Control Studies

Risk Factors

Multifactorial Inheritance

Biomarkers

Source

Open in PubMed

Identifiers

PMID: 39531635
DOI: 10.1093/eurjpc/zwae371

Genes

FH
LPA
APOB
APOE
LDLR
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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