LDLR
HGNC:6547 · SaudiVarKB evidence summary derived from retained literature mentions.
61Gene mentions
61Publications
36Linked variants
39Associated phenotypes
Associated phenotypes
Co-mentioned in LDLR publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| familial hypercholesterolemia | HP:0003124 | 40 | 40 |
| coronary artery disease | — | 8 | 8 |
| dyslipidemia | — | 6 | 6 |
| diabetes mellitus | — | 5 | 5 |
| obesity | HP:0001513 | 4 | 4 |
| hypertension | — | 4 | 4 |
| myocardial infarction | — | 3 | 3 |
| leukemia | — | 2 | 2 |
| autism spectrum disorder | HP:0000729 | 2 | 2 |
| ovarian cancer | — | 2 | 2 |
| Down syndrome | — | 2 | 2 |
| asthma | — | 2 | 2 |
| hepatocellular carcinoma | — | 2 | 2 |
| stroke | — | 2 | 2 |
| inflammatory bowel disease | — | 2 | 2 |
| colorectal cancer | — | 2 | 2 |
| breast cancer | — | 2 | 2 |
| Alzheimer disease | — | 1 | 1 |
| intellectual disability | HP:0001249 | 1 | 1 |
| epilepsy | HP:0001250 | 1 | 1 |
| rheumatoid arthritis | — | 1 | 1 |
| sickle cell disease | HP:0001878 | 1 | 1 |
| pre-eclampsia | — | 1 | 1 |
| congenital cataract | — | 1 | 1 |
| polycystic kidney disease | — | 1 | 1 |
| inborn error of metabolism | HP:0001939 | 1 | 1 |
| metabolic syndrome | — | 1 | 1 |
| SARS | — | 1 | 1 |
| glycogen storage disease | HP:0003542 | 1 | 1 |
| infertility | — | 1 | 1 |
| gastric cancer | — | 1 | 1 |
| hepatitis C | — | 1 | 1 |
| Leber congenital amaurosis | — | 1 | 1 |
| arrhythmia | — | 1 | 1 |
| Klinefelter syndrome | — | 1 | 1 |
| recurrent pregnancy loss | — | 1 | 1 |
| Alstrom syndrome | — | 1 | 1 |
| prostate cancer | — | 1 | 1 |
| lung cancer | — | 1 | 1 |
Linked variants
Variants normalized to LDLR| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| p.W577C | p.W577C | 3 | 3 |
| c.1474G>A | c.1474G>A | 2 | 2 |
| p.D492N | p.D492N | 2 | 2 |
| c.1429G>A | c.1429G>A | 2 | 2 |
| p.D477N | p.D477N | 2 | 2 |
| c.2027delG | c.2027delG | 2 | 2 |
| p.C231* | p.C231* | 1 | 1 |
| p.R744* | p.R744* | 1 | 1 |
| c.335_336insCGAG | c.335_336insCGAG | 1 | 1 |
| p.F114Rfs | p.F114Rfs | 1 | 1 |
| c.622G>A | c.622G>A | 1 | 1 |
| p.E208K | p.E208K | 1 | 1 |
| p.Y419D | p.Y419D | 1 | 1 |
| p.S202Tfs | p.S202Tfs | 1 | 1 |
| c.1731G>T | c.1731G>T | 1 | 1 |
| c.1783C>T | c.1783C>T | 1 | 1 |
| p.R595W | p.R595W | 1 | 1 |
| c.9835A>G | c.9835A>G | 1 | 1 |
| p.S3279G | p.S3279G | 1 | 1 |
| p.G676Afs | p.G676Afs | 1 | 1 |
| 1171G>A | — | 1 | 1 |
| 1167G>A | — | 1 | 1 |
| c.2416dup | c.2416dup | 1 | 1 |
| p.Gln35Ter | p.Gln35Ter | 1 | 1 |
| c.2416dupG | c.2416dupG | 1 | 1 |
| c.666_670dup | c.666_670dup | 1 | 1 |
| p.Ser3279Gly | p.Ser3279Gly | 1 | 1 |
| rs2228671 | rs2228671 | 1 | 1 |
| rs72658855 | rs72658855 | 1 | 1 |
| rs5925 | rs5925 | 1 | 1 |
| rs1529729 | rs1529729 | 1 | 1 |
| rs688 | rs688 | 1 | 1 |
| c.1332dup | c.1332dup | 1 | 1 |
| p.D445* | p.D445* | 1 | 1 |
| c.1413A>G | c.1413A>G | 1 | 1 |
| rs5930 | rs5930 | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 6 |
| Not specified | — | 200 | 3 |
| Saudi Arabia | — | — | 2 |
| Not specified | — | 28 | 2 |
| Saudi Arabia | — | 200 | 2 |
| Not specified | — | 3 | 1 |
| Not specified | — | 19 | 1 |
| Saudi Arabia | — | 37 | 1 |
| Not specified | — | 16 | 1 |
| Saudi Arabia | — | 88 | 1 |
| Not specified | — | 32 | 1 |
| Saudi Arabia · Asir | — | — | 1 |
| Saudi Arabia | — | 100 | 1 |
| Saudi Arabia · Hail | — | 1 | 1 |
| Saudi Arabia | — | 500 | 1 |
| Saudi Arabia · Jazan | — | — | 1 |
| Saudi Arabia | — | 22 | 1 |
| Not specified | — | 79 | 1 |
| Not specified | — | 751 | 1 |
| Saudi Arabia | — | 139 | 1 |
| Saudi Arabia | — | 9 | 1 |
| Saudi Arabia · Tabuk | — | — | 1 |
| Saudi Arabia · Makkah | — | 208 | 1 |
| Not specified | — | 459 | 1 |
| Saudi Arabia | — | 1,254 | 1 |
| Saudi Arabia | — | 92 | 1 |
Supporting publications
61 records- 2026Whole-exome sequencing in obstructive coronary artery disease identifies rare and novel variants in cardiac arrhythmia and pulmonary arterial hypertension-associated genes.Biomolecules & biomedicinePubMed ↗
- 2026Epiafzelechin, a Flavanol, Regulates Lipid Homeostasis Through Modulation of HMGCR, PCSK9, and PPAR-α: Mechanistic Insights and Therapeutic Implications.Cardiovascular therapeuticsPubMed ↗
- 2026Global survey of genetic testing methods for familial hypercholesterolemia. A study and recommendations from the EAS FHSC registry.European journal of preventive cardiologyPubMed ↗
- 2026Tumor-directed evolution of VSVΔ51M produces novel viruses with enhanced antitumor efficacy.Frontiers in molecular biosciencesPubMed ↗
- 2026Overcoming Barriers to Clinical Translation: MG1 Maraba Virus as an Emerging Platform for Oncolytic Immunotherapy.VirusesPubMed ↗
- 2026Apolipoprotein E in Alzheimer's disease: A review of APOE receptors, signalling pathways and therapeutic opportunities.Molecular and cellular neurosciencesPubMed ↗
- 2025Identification of variants in exon 4 of the LDLR gene and assessment of their effects on the produced proteins in saudi women with metabolic syndrome.Diabetology & metabolic syndromePubMed ↗
- 2025Homozygous familial hypercholesterolemia in a high-consanguinity population: Insights from a Saudi cohort.Journal of clinical lipidologyPubMed ↗
- 2025Gastric mucosal differentially expressed genes after bariatric surgery: Effects on sterol-related pathways.The Journal of steroid biochemistry and molecular biologyPubMed ↗
- 2025Multimodal Therapy Achieves Secondary Prevention LDL-C Targets in LDL-Receptor Null Homozygous Familial Hypercholesterolemia.JACC. Case reportsPubMed ↗
- 2025Charantin targets HMGCR-PCSK9 axis and activates PPAR-α signaling to ameliorate hyperlipidemia: Mechanistic insights from bioinformatics and in-vivo studies.PloS onePubMed ↗
- 2025Pathogenic LDLR Variants (c.103 C>T and c.2416dup) in ligand-binding and cytosolic domains in Saudi familial hypercholesterolemia: Molecular characterization and computational insights.Computational and structural biotechnology journalPubMed ↗
- 2025Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia.Frontiers in geneticsPubMed ↗
- 2025Structural dynamics of PCSK9 loss-of-function variants: implications for LDL cholesterol regulation and cardiovascular risk.Cellular and molecular biology (Noisy-le-Grand, France)PubMed ↗
- 2025Clinical exome sequencing identifies novel gene variants associated with ischemic stroke in the Saudi Tabuk population.Frontiers in human neurosciencePubMed ↗
- 2024The Effect of PCSK9 Inhibitors on LDL-C Target Achievement in Patients with Homozygous Familial Hypercholesterolemia: A Retrospective Cohort Analysis.Advances in therapyPubMed ↗
- 2024Berberine modulates cardiovascular diseases as a multitarget-mediated alkaloid with insights into its downstream signals using in silico prospective screening approaches.Saudi journal of biological sciencesPubMed ↗
- 2024Potential use of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibition and prevention method in viral infection.Microbial cell factoriesPubMed ↗
- 2024Viscosol Treatment Ameliorates Insulin-Mediated Regulation of Dyslipidemia, Hepatic Steatosis, and Lipid Metabolism by Targeting PTP1B in Type-2 Diabetic Mice Model.International journal of endocrinologyPubMed ↗
- 2023Identification and functional characterization of two rare LDLR stop gain variants (p.C231* and p.R744*) in Saudi familial hypercholesterolemia patients.Panminerva medicaPubMed ↗
- 2023Association of CELSR2, APOB100, ABCG5/8, LDLR, and APOE polymorphisms and their genetic risks with lipids among the Thai subjects.Saudi journal of biological sciencesPubMed ↗
- 2023Management and clinical outcomes of patients with homozygous familial hypercholesteremia in Saudi Arabia.Monaldi archives for chest disease = Archivio Monaldi per le malattie del toracePubMed ↗
- 2023Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.Frontiers in physiologyPubMed ↗
- 2023Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights.Life (Basel, Switzerland)PubMed ↗
- 2022The rate of secondary genomic findings in the Saudi population.American journal of medical genetics. Part APubMed ↗
- 2022Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.Current vascular pharmacologyPubMed ↗
- 2022Edible Bird's Nest Regulates Hepatic Cholesterol Metabolism through Transcriptional Regulation of Cholesterol Related Genes.Evidence-based complementary and alternative medicine : eCAMPubMed ↗
- 2022PCSK9 pathway-noncoding RNAs crosstalk: Emerging opportunities for novel therapeutic approaches in inflammatory atherosclerosis.International immunopharmacologyPubMed ↗
- 2021Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen.Frontiers in medicinePubMed ↗
- 2021Bioinformatics analysis of rhinovirus capsid proteins VP1-4 sequences for cross-serotype vaccine development.Journal of infection and public healthPubMed ↗
- 2021Acaudina molpadioides mediates lipid uptake by suppressing PCSK9 transcription and increasing LDL receptor in human liver cells.Saudi journal of biological sciencesPubMed ↗
- 2020Heterozygosity in LDLR rs2228671 and rs72658855 Gene is Associated with Increased Risk of Developing Coronary Artery Disease in India -A Case-Control Study.Endocrine, metabolic & immune disorders drug targetsPubMed ↗
- 2020Zygophyllum album saponins prevent atherogenic effect induced by deltamethrin via attenuating arterial accumulation of native and oxidized LDL in rats.Ecotoxicology and environmental safetyPubMed ↗
- 2020Lomitapide for treatment of homozygous familial hypercholesterolemia: The Québec experience.AtherosclerosisPubMed ↗
- 2019Screening of common genetic variants in the APOB gene related to familial hypercholesterolemia in a Saudi population: A case-control study.MedicinePubMed ↗
- 2019Genetic testing for familial hypercholesterolemia: Impact on diagnosis, treatment and cardiovascular risk.European journal of preventive cardiologyPubMed ↗
- 2019LDLR Gene Polymorphisms (rs5925 and rs1529729) Are Associated with Susceptibility to Coronary Artery Disease in a South Indian Population.Medical sciences (Basel, Switzerland)PubMed ↗
- 2019Molecular Dynamics Simulation Reveals Exposed Residues in the Ligand-Binding Domain of the Low-Density Lipoprotein Receptor that Interacts with Vesicular Stomatitis Virus-G Envelope.VirusesPubMed ↗
- 2018In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.Journal of computational biology : a journal of computational molecular cell biologyPubMed ↗
- 2018LDLR rs688 TT Genotype and T Allele Are Associated with Increased Susceptibility to Coronary Artery Disease-A Case-Control Study.Journal of cardiovascular development and diseasePubMed ↗
- 2018Simplified Canadian Definition for Familial Hypercholesterolemia.The Canadian journal of cardiologyPubMed ↗
- 2018Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.Genetic testing and molecular biomarkersPubMed ↗
- 2018Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.AtherosclerosisPubMed ↗
- 2017Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.Acta biochimica PolonicaPubMed ↗
- 2017Whole-Exomes Sequencing Delineates Gene Variants Profile in a Young Saudi Male with Familial Hypercholesterolemia: Case Report.Journal of clinical and diagnostic research : JCDRPubMed ↗
- 2017The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry.The open cardiovascular medicine journalPubMed ↗
- 2017Interpreting the Mechanism of APOE (p.Leu167del) Mutation in the Incidence of Familial Hypercholesterolemia; An In-silico Approach.The open cardiovascular medicine journalPubMed ↗
- 2017The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.Scientific reportsPubMed ↗
- 2016Reducing Vascular Calcification by Anti-IL-1β Monoclonal Antibody in a Mouse Model of Familial Hypercholesterolemia.AngiologyPubMed ↗
- 2016Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children.GenomicsPubMed ↗
- 2016Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.Human genomicsPubMed ↗
- 2016Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.BMC genomicsPubMed ↗
- 2015Vitamin B12 insufficiency induces cholesterol biosynthesis by limiting s-adenosylmethionine and modulating the methylation of SREBF1 and LDLR genes.Clinical epigeneticsPubMed ↗
- 2015Release of Vesicular Stomatitis Virus Spike Protein G-Pseudotyped Lentivirus from the Host Cell Is Impaired upon Low-Density Lipoprotein Receptor Overexpression.Journal of virologyPubMed ↗
- 2015Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population.Acta biochimica PolonicaPubMed ↗
- 2014Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.Human genome variationPubMed ↗
- 2013Correlation of SPECT imaging, biochemical parameters and mutation with systolic dysfunction.Genetics and molecular research : GMRPubMed ↗
- 2012The Arabic allele: a single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia.AtherosclerosisPubMed ↗
- 2010LDLR-Gene therapy for familial hypercholesterolaemia: problems, progress, and perspectives.International archives of medicinePubMed ↗
- 1997Distribution of HLA-DQ alpha and polymarker (LDLR, GC, GYPA, HBGG, and D7S8) alleles in Arab and Pakistani populations living in Abu Dhabi, United Arab Emirates.Journal of forensic sciencesPubMed ↗
- 1991Recurrent mutation at aa 792 in the LDL receptor gene in a French patient.Human geneticsPubMed ↗