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Home › Research › Topic

Genetics and APOE

933 studies in this group. A computer grouped them by what their titles and summaries are about, not by a hand-made list. The name describes most of the group, not every study in it.

Each study has a usefulness score out of 100 (rubric version 4.0). Tap a score to see what makes it up.

Highest usefulness score first. Studies without a score come last.

  1. Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration

    ✓ Peer-reviewed alzhub usefulness score 50 out of 100. Journal of medical genetics 2005-03-25 Disparities

    The findings support the pathological evidence that underlying variations in MAPT could contribute to disease pathogenesis by subtle effects on gene expression and/or splicing.

  2. Declining brain activity in cognitively normal apolipoprotein E ɛ4 heterozygotes: A foundation for using positron emission tomography to efficiently test treatments to prevent Alzheimer's disease

    ✓ Peer-reviewed alzhub usefulness score 50 out of 100. Proceedings of the National Academy of Sciences 2001-03-13 Genetics

    Cross-sectional positron emission tomography (PET) studies find that cognitively normal carriers of the apolipoprotein E (APOE) epsilon4 allele, a common Alzheimer's susceptibility gene, have abnormally low measurements of the cerebral metabolic rate for glucose (CMRgl) in the same regions as patients with Alzheimer's dementia.

  3. Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation

    ✓ Peer-reviewed alzhub usefulness score 50 out of 100. JAMA 1997-03-01 Digital health tools

    Other than the early onset, this clinical phenotype is indistinguishable from sporadic AD except that affected individuals frequently complained of headache preceding and during the disease.

  4. Apolipoprotein E ϵ4 and cerebral hemorrhage associated with amyloid angiopathy

    ✓ Peer-reviewed alzhub usefulness score 50 out of 100. Annals of Neurology 1995-08-01 Genetics

    Cerebral amyloid angiopathy (CAA) is characterized by cerebrovascular deposition of the amyloid beta-peptide, leading to intracerebral hemorrhage in severe cases.

  5. Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants

    ✓ Peer-reviewed alzhub usefulness score 49 out of 100. Journal of Alzheimer's disease : JAD 2017 Risk genes beyond APOE

    We conducted a comprehensive screening of rare coding variants in an African American cohort to identify novel pathogenic mutations within the early-onset Alzheimer's disease (EOAD) genes (APP, PSEN1, and PSEN2) in this understudied population.

  6. The longevity gene APOE2 enhances pericyte function and reduces lipid droplets

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Brain : a journal of neurology 2026-09-16 Genetics

    Pericytes are critical for maintaining blood-brain barrier (BBB) integrity and have emerged as key contributors to Alzheimer's disease (AD) pathogenesis.

  7. APOE genotypes differentially remodel the astrocytic lipid droplet proteome to shape lipid droplet dynamics

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Nature communications 2026-08-19 Genetics

    Lipid droplets are dynamic cellular organelles that store neutral lipids and coordinate metabolic and stress-response pathways.

  8. Identification of chemicals targeting dementia genes and pathways in the Comparative Toxicogenomics Database

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Alzheimer's & dementia : the journal of the Alzheimer's Association 2025-12-22 Risk factors

    We identified chemicals enriched for dementia pathways, suggesting broad classes of chemicals contribute to dementia.

  9. Biological Aging Acceleration in Major Depressive Disorder: A Multi-Omics Analysis

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Aging cell 2025-12-04 Genetics

    Major depressive disorder (MDD) is linked to a higher risk of premature aging, but the mechanisms underlying this association remain unclear.

  10. Altered Hepatic Metabolism in Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Cell reports 2025-05-31 Down syndrome and Alzheimer's

    Trisomy 21 (T21) gives rise to Down syndrome (DS), the most commonly occurring chromosomal abnormality in humans.

  11. Alzheimer's Disease polygenic risk, the plasma proteome, and dementia incidence among UK older adults

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. GeroScience 2024-11-26 Biomarkers

    Alzheimer's Disease (AD) is a complex polygenic neurodegenerative disorder.

  12. Astrocyte transcriptomic changes along the spatiotemporal progression of Alzheimer's disease

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Nature neuroscience 2024-11-11 Digital health tools

    Astrocytes are crucial to brain homeostasis, yet their changes along the spatiotemporal progression of Alzheimer's disease (AD) neuropathology remain unexplored.

  13. Identifying Genes Associated with Alzheimer's Disease Using Gene-Based Polygenic Risk Score

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Journal of Alzheimer's disease : JAD 2023 Genetics

    Gene-based PRS identified 389 genes with 164 of them not previously reported as AD-associated.

  14. Methylation differences in Alzheimer's disease neuropathologic change in the aged human brain

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Acta neuropathologica communications 2022-11-29 Genetics

    Alzheimer's disease (AD) is the most common cause of dementia with advancing age as its strongest risk factor.

  15. Blood DNA Methylation Patterns in Older Adults With Evolving Dementia

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. The journals of gerontology. Series A, Biological sciences and medical sciences 2022-09-01 Genetics

    Dementia and cognitive disorders are major aging-associated pathologies.

  16. APOE interacts with ACE2 inhibiting SARS-CoV-2 cellular entry and inflammation in COVID-19 patients

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Signal transduction and targeted therapy 2022-08-01 Genetics

    Apolipoprotein E (APOE) plays a pivotal role in lipid including cholesterol metabolism.

  17. Plasma high-density lipoprotein cholesterol and risk of dementia: observational and genetic studies

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Cardiovascular research 2022-03-01 Biomarkers

    High plasma HDL cholesterol was observationally associated with increased risk of any dementia and Alzheimer's disease, suggesting that HDL cholesterol can be used as an easily accessible plasma biomarker for individual risk assessment.

  18. PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer's Disease: Data from PUMCH Dementia Cohort

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Journal of Alzheimer's disease : JAD 2022 Biomarkers

    Nine PSEN2 rare variants were found, including two reported (M239T, R62C) and seven novel variants (N141S, I368F, L396I, G117X, I146T, S147N, H220Y).

  19. Altered cell and RNA isoform diversity in aging Down syndrome brains

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Proceedings of the National Academy of Sciences of the United States of America 2021-11-23 Genetics

    Down syndrome (DS), trisomy of human chromosome 21 (HSA21), is characterized by lifelong cognitive impairments and the development of the neuropathological hallmarks of Alzheimer's disease (AD).

  20. Human neocortical expansion involves glutamatergic neuron diversification

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Nature 2021-10-06 Genetics

    The neocortex is disproportionately expanded in human compared with mouse 1,2 , both in its total volume relative to subcortical structures and in the proportion occupied by supragranular layers composed of neurons that selectively make connections within the neocortex and with other telencephalic structures.

  21. Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Alzheimer's & dementia (Amsterdam, Netherlands) 2021-05-02 Risk genes beyond APOE

    We identified a PSEN1 variant (p.Thr291Pro) in an individual presenting with pure SP at 30 years of age.

  22. Aerobic exercise improves hippocampal blood flow for hypertensive Apolipoprotein E4 carriers

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 2021-01-28 Prevention trials

    Cerebrovascular dysfunction likely contributes causally to Alzheimer's disease (AD).

  23. Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Nature genetics 2020-10-26 Genetics

    Genome-wide association studies of neurological diseases have identified thousands of variants associated with disease phenotypes.

  24. Shared Causal Paths underlying Alzheimer's dementia and Type 2 Diabetes

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Scientific reports 2020-03-05 Genetics

    Although Alzheimer's disease (AD) is a central nervous system disease and type 2 diabetes MELLITUS (T2DM) is a metabolic disorder, an increasing number of genetic epidemiological studies show clear link between AD and T2DM.

  25. Polygenic risk for Alzheimer's disease shapes hippocampal scene-selectivity

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2020-01-02 Genetics

    Preclinical models of Alzheimer's disease (AD) suggest APOE modulates brain function in structures vulnerable to AD pathophysiology.

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