LDL Receptor
LDLRgeneLDLR mediates LDL endocytosis; mutations impair LDL clearance, driving lipid retention and accelerated atherogenesis.
Pathway placement
Cascade stepLipid retention & oxidation
Confidencehigh
RationaleLDL clearance and uptake regulation; LDLR deficiency causes hypercholesterolemia and early atherosclerosis.
Druggability
DruggableYes
Known drugs / candidates0
Small-molecule tractableYes
Antibody tractableYes
EnsemblENSG00000130164
Type I vs Type II discrimination
ScoresType-II-associated
R — rupture / Type-I0
C — confounder / Type-II67
A — assay feasibility52
E — evidence strength42
T1DI (composite)4
Specificity differential (R−C)-66.7
Confounder panel (Type-II drivers)
1sepsis / systemic inflammationmag 2
2anemia / acute blood lossn/a
3hypovolemia / dehydrationn/a
4tachyarrhythmian/a
5hypoxemia / respiratory failuren/a
6hypertensive emergencyn/a
7high-demand / peri-operative stressn/a
Coverage: 1/7 confounders with evidence
Tier: deep-scored (abstract-extracted) · 15 supporting references. See the discrimination table for all markers.
Assay & specimen
Class-level default (no specific cleared assay)— generic method inferred from analyte class; confirm against a specific product insert before use.
Specimen
Whole blood — gene is not a circulating analyte; measure protein product or genotype
Collection tube
K2-EDTA whole blood (lavender-top)
Method / principle
SNP genotyping / sequencing; or immunoassay of encoded protein
Reagent / substrate
Allele-specific primers/probes (TaqMan) or NGS panel; or antibody for protein
Platform
qPCR / NGS / array
Turnaround · availability
Send-out · Genotyping widely available; protein assay variable
Human genetic evidence
0.689
Open Targets association (myocardial_infarction)
5
GWAS associations
Traits: myocardial infarction
Literature evidence(17)
- Non-remnant triglyceride-rich lipoproteins due to lipoprotein lipase deficiency increase atherosclerosis in mice.Nature communications · 2026 · PMID 41484108 · doi
- Exploring the pathways linking fasting insulin to coronary artery disease: a proteome-wide Mendelian randomization study.BMC medicine · 2025 · PMID 40442727 · doi
- Plasma Protein Profile Associated With a Family History of Early-Onset Coronary Heart Disease.Circulation. Genomic and precision medicine · 2025 · PMID 41200820 · doi
- Integrated high-throughput miRNomics and lipidomics in mice with altered lipoprotein metabolism.Atherosclerosis · 2025 · PMID 41570408 · doi
- Platelets as an inter-player between hyperlipidaemia and atherosclerosis.Journal of internal medicine · 2024 · PMID 38704820 · doi
- Acute coronary syndrome in an 8-year-old child with familial hypercholesterolemia: a case report.Journal of medical case reports · 2022 · PMID 35879787 · doi
- Low-density lipoprotein nanomedicines: mechanisms of targeting, biology, and theranostic potential.Drug delivery · 2021 · PMID 33594923 · doi
- Translating genetic association of lipid levels for biological and clinical application.Cardiovascular drugs and therapy · 2021 · PMID 33604704 · doi
- Novel multi-marker proteomics in phenotypically matched patients with ST-segment myocardial infarction: association with clinical outcomes.Journal of thrombosis and thrombolysis · 2021 · PMID 34708315 · doi
- PCSK9 in Haemostasis and Thrombosis: Possible Pleiotropic Effects of PCSK9 Inhibitors in Cardiovascular Prevention.Thrombosis and haemostasis · 2019 · PMID 30605918 · doi
- Oxidative burden in familial hypercholesterolemia.Journal of cellular physiology · 2018 · PMID 29323716 · doi
- Endocytosis of lipoproteins.Atherosclerosis · 2018 · PMID 29980055 · doi
- [Congenital disorders of lipoprotein metabolism].Herz · 2017 · PMID 28555288 · doi
- Role of Brown Fat in Lipoprotein Metabolism and Atherosclerosis.Circulation research · 2016 · PMID 26837747 · doi
- Saikosaponin-a Attenuates Oxidized LDL Uptake and Prompts Cholesterol Efflux in THP-1 Cells.Journal of cardiovascular pharmacology · 2016 · PMID 26859197 · doi
- Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies.Circulation. Cardiovascular genetics · 2011 · PMID 22199011 · doi
- Lipoprotein receptors--an evolutionarily ancient multifunctional receptor family.Biological chemistry · 2010 · PMID 20868222 · doi
Clinical trials(3)
- Oxidized LDL, Oxidized LDL Receptor 1 (OLR1) Gene Polymorphism With Oxygen Therapy in Acute Myocardial Infarction.NCT03830138 · UNKNOWN · Oxidized-LDL gene polymorphism
- The Advancing Cardiac Care Unit-based Rapid Assessment and Treatment of hypErcholesterolemia (ACCURATE) StudyNCT05218005 · NA · COMPLETED · Research-based genetic test for Familial Hypercholesterolemia
- A Prospective Registry to Assess Atherosclerosis Risk Factors and Their Relationship With Coronary Plaque Properties and Genetic Variations in Patients With Early Atherosclerosis of Unclear Origin.NCT06393894 · RECRUITING · Near infrared spectroscopy, Genetic testing for LDLR, APOB, PCSK9 and LDLRAP1 mutations and niR-126, -145 and -155 expression.
Omics datasets(1)
- GSE298582GEONitroxoline Upregulates LDLR Expression, Enhances Lipid Metabolism, and Reduces Hepatic Steatosis and Atherosclerosis in Apoe-/- Mice