Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.C130R
Back to variants list

APOE

NM_000041.4:p.C130R

Associated Papers

The genetic landscape of human functional brain connectivity.

Maciel BA et al.

Nature Communications, 2026

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

Loss of PILRA promotes microglial immunometabolism to reduce amyloid pathology in cell and mouse models of Alzheimer's disease.

Weerakkody TN et al.

Science Translational Medicine, 2025

41337541 (PubMed )
Supplement: scitranslmed.adw7428_sm.pdf

Lysosomal proteomics reveals mechanisms of neuronal APOE4-associated lysosomal dysfunction.

Krogsaeter EK et al.

Autophagy, 2025

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

Fariña G et al.

Biochemistry and Biophysics Reports, 2025

A machine learning framework for classifying dementia risk in mild cognitive impairment: evidence from a Korean genome-wide association study cohort.

Cho M et al.

Alzheimer's Research & Therapy, 2025

Whole-exome sequencing of kidney transplant recipients and donors: insights into end-stage renal disease and post-transplant genetic risk.

Bayanova M et al.

Bmc Nephrology, 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

Oligogenic Familial Hypercholesterolemia Treated by Combination Therapy of Statin, Ezetimibe, PCSK9 Inhibitor, and Lomitapide.

Kojima N et al.

Internal Medicine (tokyo, Japan), 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

Germline Variants Influence Chronic Liver Disease Progression through Distinct Pathways.

Vujkovic M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Generation of APOE ε3/ε4 and APP-mutant human pluripotent stem cell line derived from an Alzheimer's patient.

Zhai Y et al.

Stem Cell Research, 2025

Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.

Miao Y et al.

Molecular Genetics & Genomic Medicine, 2025

40985600 (PubMed )
Supplement: MGG3-13-e70135-s001.zip › Supplemental_Materials_2 › proband.xlsx › Sheet1

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

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty.

Mak JKL et al.

Nature Aging, 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

Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.

Künzel R et al.

International Journal of Obesity (2005), 2025

Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.

Du X et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40585076 (PubMed )
Supplement: media-3.xlsx › Table_S6

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

A Comprehensive Review of the Genetics of Dyslipidemias and Risk of Atherosclerotic Cardiovascular Disease.

Kalwick M et al.

Nutrients, 2025

GWAS of CRP response to statins further supports the role of APOE in statin response: A GIST consortium study.

Magavern EF et al.

Pharmacological Research, 2025

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Rubino E et al.

Alzheimer's Research & Therapy, 2025

39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2

Role of genetic variants and DNA methylation of lipid metabolism-related genes in metabolic dysfunction-associated steatotic liver disease.

Wang JJ et al.

Frontiers in Physiology, 2025

40166716 (PubMed )
Supplement: Table1.xlsx › Table_S1__

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

Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.

Wang C et al.

Nature Genetics, 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

Genetics of Metabolic Dysfunction-associated Steatotic Liver Disease: The State of the Art Update.

Sookoian S et al.

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2024

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

The contribution of genetics and epigenetics to MAFLD susceptibility.

Moretti V et al.

Hepatology International, 2024

1–50 of 267 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."