Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R176C
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APOE

NM_000041.4:p.R176C

Associated Papers

Cross-ancestry comparison of aptamer and antibody protein measures.

Nicholas JC et al.

Nature Communications, 2026

41571639 (PubMed )
Supplement: 41467_2025_67814_MOESM1_ESM.pdf

Association between SLCO1B1, apolipoprotein E and ABCG2 genes and lipid response to rosuvastatin: a meta-analysis.

Li J et al.

Pharmacogenetics and Genomics, 2026

Quantification of plasma APOE4 with a novel automated Lumipulse immunoassay enables the identification of homozygous and heterozygous APOE ε4 carrier status.

Musso G et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026

Heterogeneous nature of severe hypertriglyceridemia in childhood.

Ariza MJ et al.

Journal of Clinical Lipidology, 2026

Impact of Variation in APOE on Rheumatoid Arthritis, Psoriasis, and Psoriatic Arthritis: Sequencing and Genotyping in General Population Cohorts.

Rasmussen KL et al.

Acr Open Rheumatology, 2026

Association of apolipoprotein E gene polymorphisms with risk of coronary artery disease in a Han Chinese population at middle and high altitude in China.

Zeng F et al.

Frontiers in Endocrinology, 2026

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

The Mental Roots of Performance: A Preliminary Meta-Analysis of Cognitive Genes and Athlete Status.

İpekoğlu G et al.

Molecular Neurobiology, 2025

Integrative bioinformatics analysis of APOE variants in Alzheimer's disease and clinical therapeutics.

Srivastava K et al.

Journal of Biomolecular Structure & Dynamics, 2025

Early lipid genetics: identification of common and rare genetic variants for lipid traits in Indian adolescents.

Nair JM et al.

Journal of Human Genetics, 2025

The Ongoing Utility of lipoprotein lipase activity in diagnosing familial Chylomicronemia Syndrome.

Fariña G et al.

Biochemistry and Biophysics Reports, 2025

Blood biomarkers of amyloid and tau pathologies, brain degeneration, inflammation, and oxidative stress in early- and late-onset Alzheimer's disease.

Qin Q et al.

Journal of Alzheimer's Disease : Jad, 2025

A possible role of Apolipoprotein E in Idiopathic Generalized Epilepsy.

Kabbage M et al.

Epilepsy & Behavior : E&b, 2025

Lifestyle factors, metabolic syndrome and apolipoprotein E in monozygotic twins with, at risk of and without affective disorders, as predictors of onset or recurrence of affective episodes, a seven-years follow-up study.

Vinberg M et al.

Journal of Psychosomatic Research, 2025

Correlation of APOE, SLCO1B1 and LPA KIV-2 gene polymorphisms with coronary heart disease in the Teochew population.

Xu JX et al.

World Journal of Cardiology, 2025

Mapping the APOE structurally on missense variants in elderly Brazilians.

de Lima Pizzico F et al.

Journal of Biomolecular Structure & Dynamics, 2025

Pharmacogenomics in cardiac therapy: Personalizing treatment for heart health.

Naderi N et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM3_ESM.xlsx › Supplementary_Data_1

Genetic and Metabolic Factors of Familial Dysbetalipoproteinemia Phenotype: Insights from a Cross-Sectional Study.

Blokhina AV et al.

International Journal of Molecular Sciences, 2025

Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.

Podleśny-Drabiniok A et al.

Cell Reports, 2025

40570367 (PubMed )
Supplement: NIHMS2099510-supplement-6.xlsx › VSQR_THP-1

BEscreen: a versatile toolkit to design base editing libraries.

Schneider PG et al.

Nucleic Acids Research, 2025

Association of rare APOE missense variants with Alzheimer's disease in the Japanese population.

Miyashita A et al.

Journal of Alzheimer's Disease : Jad, 2025

Genetic Variants, Bioactive Compounds, and PCSK9 Inhibitors in Hyper-LDL-Cholesterolemia: A GWAS and In Silico Study on Cardiovascular Disease Risk.

Liu M et al.

Nutrients, 2025

Genotypes of SNPs of key genes regulate susceptibility and drug sensitivity to neovascular AMD in the human population.

Cui J et al.

Bmj Open Ophthalmology, 2025

Cardiovascular diseases and risk of dementia in the general population.

Luo J et al.

European Journal of Preventive Cardiology, 2025

The Impact of SNP Score on Low-Density Lipoprotein Cholesterol Concentration and Coronary Artery Disease.

Čereškevičius D et al.

International Journal of Molecular Sciences, 2025

Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2025

Inherited Dyslipidemic Splenomegaly: A Genetic Macrophage Storage Disorder Caused by Disruptive Apolipoprotein E (APOE) Variants.

Ferreira EA et al.

Genes, 2025

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Nutritional genomics in the Mexican population. An approach to prevent the development of obesity-associated metabolic diseases.

Aguilar-Salazar A et al.

Gaceta Medica De Mexico, 2025

Computational prediction of high-risk non-synonymous SNPs in human ApoE and their structural impact on amyloid-β interaction in Alzheimer's disease pathogenesis.

Hossain MM et al.

Plos One, 2025

Clinicopathological characteristics and gene mutations in 11 patients with lipoprotein glomerulopathy.

Qin Y et al.

Renal Failure, 2024

Analysis of Alzheimer's disease associated deleterious non-synonymous single nucleotide polymorphisms and their impacts on protein structure and function by performing in-silico methods.

Akcesme B et al.

Neurogenetics, 2024

Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia.

Blokhina AV et al.

International Journal of Molecular Sciences, 2024

Targeted NGS Revealed Pathogenic Mutation in a 13-Year-Old Patient with Homozygous Familial Hypercholesterolemia: A Case Report.

Chamoieva AE et al.

International Journal of Molecular Sciences, 2024

39595952 (PubMed )
Supplement: ijms-25-11882-s001.zip › ijms-3280435-supplementary.pdf

GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia.

Shade LMP et al.

Nature Genetics, 2024

39379761 (PubMed )
Supplement: 41588_2024_1939_MOESM3_ESM.xlsx › Supplementary_Table_4

Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk.

Carreras-Torres R et al.

Genome Medicine, 2024

Fine mapping of candidate effector genes for heart rate.

Ramírez J et al.

Human Genetics, 2024

Cancer-Related Cognitive Impairment Associated with APOE rs7412 and BDNF rs6265 in Breast Cancer Survivors.

Hsiao CP et al.

Seminars in Oncology Nursing, 2024

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

Predicted deleterious variants in ABCA1, LPL, LPA and KIF6 are associated with statin response and adverse events in patients with familial hypercholesterolemia and disturb protein structure and stability.

Dagli-Hernandez C et al.

Pharmacogenetics and Genomics, 2024

Major Genetic Drivers of Statin Treatment Response in African Populations and Pharmacogenetics of Dyslipidemia Through a One Health Lens.

Lusiki Z et al.

Omics : a Journal of Integrative Biology, 2024

Genetic and biochemical analysis of severe hypertriglyceridemia complicated with acute pancreatitis or with low post-heparin lipoprotein lipase mass.

Suzuki T et al.

Endocrine Journal, 2024

APOE2 gene therapy reduces amyloid deposition and improves markers of neuroinflammation and neurodegeneration in a mouse model of Alzheimer disease.

Jackson RJ et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024

Alzheimer Disease Associated Loci: APOE Single Nucleotide Polymorphisms in Marmara Region.

Ismail AB et al.

Biomedicines, 2024

The current state of apolipoprotein E in dyslipidemia.

Rasmussen KL et al.

Current Opinion in Lipidology, 2024

APOE Gene Variation's Impact on Cardiovascular Health: A Case-Control Study.

Ismail AB et al.

Biomedicines, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."