Risk genes beyond APOE: research in the library

• 847studies on this subject, of 27,380 in the library
• 824peer-reviewed
• 1987–2026years published
• 43median usefulness score out of 100

These counts and lists are worked out from the library itself each time the page loads. A score rates how much weight a study can bear — its design, journal, evidence and recency — not whether its result is good news. How we score a study. For a plain-English guide to this subject, see Genetics.

1. Pathogenic variants in the Longitudinal Early-onset Alzheimer's Disease Study cohort Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023-10-06 · usefulness score 73/100 · Peer-reviewed
   • Genetics
2. Core cerebrospinal fluid biomarker profile in cerebral amyloid angiopathy: A meta-analysis Neurology · 2018-01-31 · usefulness score 69/100 · Peer-reviewed
   • Biomarkers

   This meta-analysis assessed which core cerebrospinal fluid biomarkers are most altered in sporadic cerebral amyloid angiopathy compared with controls and patients with Alzheimer disease. It concerns diagnosis and biomarker profiles, not treating, curing or preventing Alzheimer disease.

3. Data-driven models of dominantly-inherited Alzheimer's disease progression Brain : a journal of neurology · 2018-05-01 · usefulness score 67/100 · Peer-reviewed

   This modelling work describes the order in which biomarkers change in dominantly-inherited Alzheimer's disease, using data from an observational study. It does not test any treatment, so it offers no direct evidence for treating, curing or preventing the disease.

4. Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk Nature Genetics · 2019-01-02 · usefulness score 67/100 · Peer-reviewed
   • Genetics

   A genome-wide meta-analysis reporting new loci and functional pathways that influence Alzheimer's disease risk. Loci and pathways indicate where treatments might be sought; this work does not supply one.

5. Replication of CLU, CR1, and PICALM associations with alzheimer disease Archives of neurology · 2010-06-14 · usefulness score 66/100 · Peer-reviewed

   This follow-up case-control study replicated associations between variants in the CLU, CR1, and PICALM genes and late-onset Alzheimer's disease. It is genetic association research and does not test any treatment, cure, or prevention.

6. Meta-analysis of the association between variants in SORL1 and Alzheimer disease Archives of neurology · 2011-01-01 · usefulness score 66/100 · Peer-reviewed

   This meta-analysis reexamined the association between SORL1 variants and Alzheimer's disease across many case-control datasets. It addresses genetic risk association only and does not show that targeting SORL1 treats, cures, or prevents the disease.

7. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease Nature Genetics · 2013-10-27 · usefulness score 66/100 · Peer-reviewed
   • Genetics

   A meta-analysis of 74,046 individuals reporting 11 new susceptibility loci for Alzheimer's disease. Risk loci point to biology worth investigating; they do not by themselves give a treatment or a way to prevent the disease.

8. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease Nature Genetics · 2009-09-06 · usefulness score 66/100 · Peer-reviewed
   • Genetics

   A genome-wide association study reporting variants at CLU and PICALM associated with Alzheimer's disease. An association marks genes worth studying further; it does not show that acting on them treats or prevents the disease.

9. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease Nature Genetics · 2011-04-03 · usefulness score 66/100 · Peer-reviewed
   • Genetics

   Reports common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP associated with Alzheimer's disease. These associations nominate genes for further work and are not treatments.

10. Familial Alzheimer's disease sustained by presenilin 2 mutations: systematic review of literature and genotype-phenotype correlation Neuroscience and biobehavioral reviews · 2014-03-02 · usefulness score 66/100 · Peer-reviewed
    • Genetics
11. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases PLoS medicine · 2017-03-28 · usefulness score 64/100 · Peer-reviewed
    • Genetics
    • Diagnosis
    • Digital Tools

    This genetic screening study updated the number of families with APP, PSEN1, or PSEN2 mutations causing early-onset Alzheimer's disease. It adds to knowledge about inherited forms and the challenge of classifying variants, but it does not test a treatment or cure.

12. SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data Acta neuropathologica · 2019-03-25 · usefulness score 64/100 · Peer-reviewed
    • Genetics

    This meta-analysis of sequencing data found that rare SORL1 coding variants are associated with Alzheimer's disease risk at the gene level. It identifies a genetic risk factor but does not provide a treatment, cure or prevention.

13. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease Nature Genetics · 2009-09-06 · usefulness score 64/100 · Peer-reviewed
    • Genetics

    A genome-wide association study reporting variants at CLU and CR1 associated with Alzheimer's disease. The finding marks genes for further study and is not itself a treatment or a means of prevention.

14. Generation of antibodies specific for beta-amyloid by vaccination of patients with Alzheimer disease Nature medicine · 2002-10-15 · usefulness score 63/100 · Peer-reviewed
    • Brain Biology
    • Prevention

    Patients with Alzheimer's disease who received an Abeta42 vaccination developed antibodies that recognized amyloid plaques, diffuse deposits and vascular amyloid without cross-reacting with normal amyloid precursor protein. This shows the vaccine could produce the intended antibodies but does not report whether it improved or prevented disease.

15. Increased CSF APPs-α levels in patients with Alzheimer disease treated with acitretin Neurology · 2014-10-24 · usefulness score 63/100 · Peer-reviewed
    • Biomarkers
    • Digital Tools

    In a 4-week double-blind study of 21 patients with mild to moderate Alzheimer's disease, acitretin treatment was assessed by measuring CSF APPs-α levels, along with safety and tolerability. This small short trial measured a biomarker and did not show that acitretin treats, cures, or prevents Alzheimer's disease.

16. γ-Secretase activity, clinical features, and biomarkers of autosomal dominant Alzheimer's disease: cross-sectional and longitudinal analysis of the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS) The Lancet. Neurology · 2024-07-26 · usefulness score 63/100 · Peer-reviewed
    • Genetics

    In people with inherited (autosomal dominant) Alzheimer's caused by PSEN1 variants, lower activity of γ-secretase, an enzyme involved in making amyloid β, was associated with earlier age at symptom onset. The authors suggest this partly explains clinical differences between people with the inherited form, support targeting γ-secretase as a treatment approach, and propose cell-based models to help predict when symptoms will start.

17. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease Nature genetics · 2007-01-14 · usefulness score 61/100 · Peer-reviewed

    This 2007 study reported that inherited variants in the SORL1 gene, found in non-coding (intronic) parts of the gene, are associated with late-onset Alzheimer's disease, and that they "may regulate" how much SORL1 is made. It also showed that SORL1 steers the amyloid precursor protein into recycling pathways, and that when SORL1 is low the protein is sorted into compartments that produce amyloid-beta. The authors say this "suggest[s]" that changes in SORL1 are involved in causing Alzheimer's; our record gives no sample size or effect size, and the study offers no test or treatment.

18. Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis Science · 2009-02-26 · usefulness score 61/100 · Peer-reviewed
    • Genetics
    • Other Dementias

    Reports 13 mutations in the FUS/TLS gene on chromosome 16 found in familial amyotrophic lateral sclerosis (ALS), a fatal motor neuron disorder. Mutant FUS/TLS protein built up in the cytoplasm of nerve cells, similar to TDP43, which the authors suggest may be a shared mechanism in ALS and possibly other neurodegenerative disorders.

19. Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 Science · 2009-02-26 · usefulness score 61/100 · Peer-reviewed
    • Genetics
    • Other Dementias

    Identified mutations in the FUS gene in families with inherited amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. The authors suggest a mechanism shared with another ALS gene, TARDBP, may underlie motor neuron degeneration. The study is about ALS, not Alzheimer's.

20. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum American journal of human genetics · 1999-09-01 · usefulness score 60/100 · Peer-reviewed
    • Genetics

    In Rouen (426,710 residents), this 1999 population study found early-onset Alzheimer's disease, defined as onset before age 61, at 41.2 per 100,000 persons at risk, and a strictly defined inherited form (at least three early-onset cases across three generations) at 5.3 per 100,000. In 34 French families with that inherited form, the authors found PSEN1 mutations in 19 (56%), including four variants "not reported elsewhere". These figures describe how common the disease was and which gene was involved in a selected group of families; they are not personal risk estimates, and the study tested no treatment.

See all 847 studies in Risk genes beyond APOE, with filters →

• Pregnancy History and Loss of Normal PSEN2 Function Impact Female Late-Life Cognitive Processing, Inhibitory Signaling, and Gliosis bioRxiv · 2026-10-30 · usefulness score 16/100 · Preprint — not yet peer-reviewed
  • Genetics
  • Brain Biology
• Temporal Proteomics Links the APP London Mutation to Early Cholesterol Remodeling Cell Programs in Human Neurons bioRxiv · 2026-10-24 · usefulness score 16/100 · Preprint — not yet peer-reviewed
  • Genetics
  • Brain Biology
  • Risk Factors
• Too early for LATE? Age at onset is associated with the clinical and neuroimaging expression of limbic-predominant age- related TDP-43 pathology in Alzheimer’s disease medRxiv · 2026-10-20 · usefulness score 16/100 · Preprint — not yet peer-reviewed
  • Brain Scans
  • Brain Biology
• Longitudinal single-cell transcriptional profiling identifies dynamic neurodegenerative mechanisms in Christianson Syndrome rat bioRxiv · 2026-10-20 · usefulness score 16/100 · Preprint — not yet peer-reviewed
  • Brain Biology
• Female microglia show heightened responses to aging and amyloid pathology in mice and humans bioRxiv · 2026-10-19 · usefulness score 16/100 · Preprint — not yet peer-reviewed
  • Brain Biology
• The effects of Arf4 gene knockdown on Alzheimer's amyloid β deposition: Possible role in cognitive resilience Research Square · 2026-10-14 · usefulness score 16/100 · Preprint — not yet peer-reviewed
  • Genetics
  • Brain Biology
• The modulatory effects of Hericium erinaceus and donepezil on amyloid accumulation and autophagy-associated clearance in Aβ 1-42 -induced N2a cells bioRxiv · 2026-10-14 · usefulness score 16/100 · Preprint — not yet peer-reviewed
  • Treatments
  • Brain Biology
• Endothelial CD36 links arteriolar remodeling to metabolic and immune alterations in Alzheimer’s disease bioRxiv · 2026-10-14 · usefulness score 16/100 · Preprint — not yet peer-reviewed
  • Genetics
  • Brain Biology
• Person-centred care in the early post-diagnostic phase of young-onset dementia: co-created insights from service users and professionals through participatory action research Research Square · 2026-10-06 · usefulness score 16/100 · Preprint — not yet peer-reviewed
  • Diagnosis
• Closed-head injury produces a delayed, region-specific defect in glucose-carbon routing at the pyruvate branchpoint in APP/PS1 KI mice bioRxiv · 2026-10-06 · usefulness score 16/100 · Preprint — not yet peer-reviewed
  • Risk Factors
  • Brain Biology
  • Digital Tools

All 847 studies in Risk genes beyond APOE, newest first →

Studies by year published

Counts the 847 studies with a usable publication date. The library is a large sample of published work, not a complete index, so these counts describe the library, not the whole field.

• Getting a diagnosis
• Biomarkers
• Clinical trials
• Prevention and risk
• Caregiving
• How common it is
• Costs and economics
• Genetics
• Laboratory science
• Disease mechanisms
• Vascular contributions
• Prevention trials
• Clinical safety
• Health systems and care delivery
• End-of-life care
• Risk factors
• Digital health tools
• Treatments
• Disparities
• Mild cognitive impairment
• Brain scans and imaging
• TREM2 and immune genetics
• Cognitive tests and assessment
• Lewy body dementia
• Down syndrome and Alzheimer's
• Long-term cohort studies
• Inflammation and the immune system
• Tau biomarkers
• Brain tissue and pathology
• Drug development
• Hippocampus size on brain scans

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