Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Investigation of the Effects of Noncoding LDLR Variants on Hyperlipidaemia risk.

Human heredity - 1 Jan 2026

Rojano Daniela, Curtis David

Abstract excerpt

INTRODUCTION: Coding and noncoding variants of the LDLR gene have been reported to cause familial hyperlipidaemia (FH) and rare coding variants have been shown to increase risk of hyperlipidaemia in the general population. METHODS: Hyperlipidaemia status had previously been assigned for 470,000 UK Biobank participants in a study of rare coding variants. Effects of variants obtained from whole-genome sequencing in...

Topics

Join the communities discussing this publication.

FH gene
Gene Frequency
Genetic Predisposition to Disease
Hyperlipidemias
Polymorphism, Single Nucleotide

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Promoter Regions, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 42430288
DOI: 10.1159/000553528
PMCID: PMC13476054

Genes

LDLR
FH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Investigation of the Effects of Noncoding LDLR Variants on Hyperlipidaemia risk.PMID 42430288Read ↗

Exome wide association study for blood lipids in 1,158,017 individuals from diverse populationsSemantic proximity Read ↗

Analysis of exome-sequenced UK Biobank subjects implicates genes affecting risk of hyperlipidaemia.Semantic proximity Read ↗

Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk.Semantic proximity Read ↗

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.Semantic proximity Read ↗

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.Semantic proximity Read ↗

Update and Analysis of the University College London Low Density Lipoprotein Receptor Familial Hypercholesterolemia DatabaseSemantic proximity Read ↗

Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank—Brief ReportSemantic proximity Read ↗

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

Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease.Semantic proximity Read ↗

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

Exome-wide association study of blood lipids in 1,158,017 individuals from diverse populations.Semantic proximity Read ↗

Analysis of 200 000 exome-sequenced UK Biobank subjects illustrates the contribution of rare genetic variants to hyperlipidaemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.