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Research

27,380 Alzheimer's and dementia studies in plain English, each scored out of 100.

Find studies

Showing 1–25 of 50 studies in Genetics in JAMA Neurology (page 1 of 2) · 27,380 in the whole library · How the 0–100 score works

Browse by subject, author or institution

Each number is how many studies that link shows, with your other filters kept.

Other subjects

Authors

Names as each record prints them; the same person can appear under two spellings.

Institutions

From OpenAlex; 12,859 studies have no institution on record and are not counted here.

What “Genetics” covers

Genetics — Inherited risk: APOE and the other risk genes, and what they do and don't tell you.

A note on reading research. One study is rarely the final word.

We try to note the size of a study, whether it was in humans or animals, and how early-stage the finding is. If a summary here doesn't make that clear, treat it with extra caution and check the original source.

APOE Genotype and Alzheimer Disease Risk Across Age, Sex, and Population Ancestry

✓ Peer-reviewed alzhub usefulness score 82 out of 100. JAMA Neurology 2023-12-01

Among 68 756 unique individuals, analyses included 21 852 East Asian (demographic data not available), 5738 Hispanic (68.2% female; mean [SD] age, 75.4 [8.8] years), 7145 non-Hispanic Black (hereafter referred to as Black) (70.8% female; mean [SD] age, 78.4 [8.2] years), and 34 021 non-Hispanic White (hereafter referred to as White) (59.3% female; mean [SD] age, 77.0 [9.1] years) individuals. 5 key findings →

Design: case-control Participants: 68,756 Evidence: high

Full summary, score breakdown and related studies → Original source Free full text

Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis

✓ Peer-reviewed alzhub usefulness score 78 out of 100. JAMA neurology 2021-01-01

In addition, several loci associated with rare variants, including a genome-wide significant intergenic locus near IGF1R at 15q26 (P = 1.7 × 10-9) and 6 additional loci with suggestive significance (P ≤ 5 × 10-7) such as API5 at 11p12 (P = 8.8 × 10-8) and RBFOX1 at 16p13 (P = 5.4 × 10-7) were identified. 4 key findings →

Design: meta-analysis Participants: 2,784 Evidence: high

Full summary, score breakdown and related studies → Original source Free full text

Apolipoprotein E Genotype and Sex Risk Factors for Alzheimer Disease: A Meta-analysis

✓ Peer-reviewed alzhub usefulness score 74 out of 100. JAMA neurology 2017-10-01

Contrary to long-standing views, men and women with the APOE ε3/ε4 genotype have nearly the same odds of developing AD from age 55 to 85 years, but women have an increased risk at younger ages. 5 key findings →

Design: case-control study Evidence: moderate

Full summary, score breakdown and related studies → Original source Free full text

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study

✓ Peer-reviewed alzhub usefulness score 72 out of 100. JAMA neurology 2014-11-01

Analysis confirmed the association of APOE with earlier AAO (P = 3.3 × 10(-96)), with associations in CR1 (rs6701713, P = 7.2 × 10(-4)), BIN1 (rs7561528, P = 4.8 × 10(-4)), and PICALM (rs561655, P = 2.2 × 10(-3)) reaching statistical significance (P Conclusions and relevance We confirmed an association of APOE (OMIM 107741) variants with AAO among affected participants with LOAD and observed novel associations of CR1 (OMIM 120620), BIN1 (OMIM 601248), and PICALM (OMIM 603025) with AAO. 3 key findings →

Design: meta-analysis Participants: 9,162 Evidence: high

Full summary, score breakdown and related studies → Original source Free full text

Amyloid-Related Imaging Abnormalities and β-Amyloid-Targeting Antibodies: A Systematic Review

✓ Peer-reviewed alzhub usefulness score 72 out of 100. JAMA neurology 2022-03-01

Apolipoprotein E (ApoE) ε4 genotype was the main risk factor for both ARIA types; ARIA-E incidence was further associated with treatment dose, affecting the 55% of ApoE ε4 carriers in the high-dose aducanumab treatment group. 2 key findings →

Design: systematic review Evidence: high

Full summary, score breakdown and related studies → Original source Full text may need a subscription

Sex-Specific Association of Apolipoprotein E With Cerebrospinal Fluid Levels of Tau

✓ Peer-reviewed alzhub usefulness score 71 out of 100. JAMA neurology 2018-08-01

After correcting for multiple comparisons using the Bonferroni procedure, we observed a statistically significant interaction between APOE-ε4 and sex on CSF total tau (β = 0.41; 95% CI, 0.27-0.55; P Conclusions and relevance We provide robust evidence of a stronger association between APOE-ε4 and CSF tau levels among women compared with men across multiple independent data sets. 5 key findings →

Design: cohort study Participants: 1,798 Evidence: moderate

Full summary, score breakdown and related studies → Original source Free full text

White Matter Abnormalities and Cognition in Aging and Alzheimer Disease

✓ Peer-reviewed alzhub usefulness score 70 out of 100. JAMA Neurology 2025-06-09

Of 4467 participants who underwent 9208 longitudinal cognitive sessions, 2698 (60.4%) were female, and the mean age (SD) was 74.3 (9.2) years; 3213 were cognitively unimpaired, 972 had mild cognitive impairment, and 282 had AD dementia. 2 key findings →

Design: cohort study Participants: 4,467 Evidence: moderate

Full summary, score breakdown and related studies → Original source Free full text

Association Between Olfactory Dysfunction and Amnestic Mild Cognitive Impairment and Alzheimer Disease Dementia

✓ Peer-reviewed alzhub usefulness score 69 out of 100. JAMA neurology 2016-01-01

Among the 1430 cognitively normal participants included, the mean (SD) age was 79.5 (5.3) years, 49.4% were men, the mean duration of education was 14.3 years, and 25.4% were APOE ε4 carriers. 5 key findings →

Design: longitudinal study Participants: 1,630 Evidence: moderate

Full summary, score breakdown and related studies → Original source Free full text

Assessment of Racial Disparities in Biomarkers for Alzheimer Disease

✓ Peer-reviewed alzhub usefulness score 67 out of 100. JAMA neurology 2019-03-01

There were no racial differences in the frequency of cerebral ischemic lesions noted on results of brain magnetic resonance imaging, mean cortical standardized uptake value ratios for Pittsburgh compound B, or for amyloid-β42 concentrations in CSF. 4 key findings →

Design: cross-sectional Participants: 1,255 Evidence: moderate

Full summary, score breakdown and related studies → Original source Free full text

Assessment of Demographic, Genetic, and Imaging Variables Associated With Brain Resilience and Cognitive Resilience to Pathological Tau in Patients With Alzheimer Disease

✓ Peer-reviewed alzhub usefulness score 67 out of 100. JAMA neurology 2020-05-01

Higher educational level (standardized β = 0.23, P Conclusions and relevance Results of this study suggest that women and young patients with AD have relative preservation of brain structure when exposed to neocortical pathological tau. 3 key findings →

Design: cross-sectional Participants: 260 Evidence: moderate

Full summary, score breakdown and related studies → Original source Free full text

Effect of apolipoprotein E genotype and diet on apolipoprotein E lipidation and amyloid peptides: randomized clinical trial

✓ Peer-reviewed alzhub usefulness score 67 out of 100. JAMA neurology 2013-08-01

Baseline levels of LD Aβ were greater for adults with mild cognitive impairment compared with adults with normal cognition (LD Aβ42, P = .05; LD Aβ40, P = .01). 3 key findings →

Evidence: high

Full summary, score breakdown and related studies → Original source Free full text

Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease

✓ Peer-reviewed alzhub usefulness score 67 out of 100. JAMA neurology 2022-07-01

In this genetic association study, a novel variant associated with AD was identified: R251G always coinherited with ε4 on the APOE gene, which mitigates the ε4-associated AD risk. 5 key findings →

Design: case-control study Participants: 37 Evidence: moderate

Full summary, score breakdown and related studies → Original source Free full text

Sex Differences in the Association of Global Amyloid and Regional Tau Deposition Measured by Positron Emission Tomography in Clinically Normal Older Adults

✓ Peer-reviewed alzhub usefulness score 66 out of 100. JAMA neurology 2019-05-01

Early tau deposition was elevated in women compared with men in individuals on the Alzheimer disease trajectory. 5 key findings →

Design: cross-sectional Participants: 89 Evidence: low

Full summary, score breakdown and related studies → Original source Free full text

Accuracy of brain amyloid detection in clinical practice using cerebrospinal fluid β-amyloid 42: a cross-validation study against amyloid positron emission tomography

✓ Peer-reviewed alzhub usefulness score 66 out of 100. JAMA neurology 2014-10-01

The agreement between Aβ classification with CSF Aβ42 and 18F-flutemetamol positron emission tomography was very high (κ = 0.85). 3 key findings →

Design: cross-sectional Participants: 118 Evidence: moderate

Full summary, score breakdown and related studies → Original source Full text may need a subscription

Longitudinal Cerebrospinal Fluid Biomarker Changes in Preclinical Alzheimer Disease During Middle Age

✓ Peer-reviewed alzhub usefulness score 66 out of 100. JAMA neurology 2015-09-01

Within-person changes in CSF biomarkers were also compared with changes in cortical PiB binding and progression to a CDR higher than 0 at follow-up. 2 key findings →

Design: cohort study Participants: 169 Evidence: moderate

Full summary, score breakdown and related studies → Original source Free full text

Prevalence and Clinical Phenotype of Quadruple Misfolded Proteins in Older Adults

✓ Peer-reviewed alzhub usefulness score 66 out of 100. JAMA neurology 2020-10-01

However, the clinical presentation, associated factors, frequency in community-based cohorts, genetic characteristics, and cognitive trajectories associated with the quadruple misfolded proteins phenotype are not well understood. 5 key findings →

Design: cohort study Participants: 375 Evidence: moderate

Full summary, score breakdown and related studies → Original source Free full text

Tracking early decline in cognitive function in older individuals at risk for Alzheimer disease dementia: the Alzheimer's Disease Cooperative Study Cognitive Function Instrument

✓ Peer-reviewed alzhub usefulness score 66 out of 100. JAMA neurology 2015-04-01

At 48 months, group differences between clinical progressors and non-progressors were significant for self (2.13, SE=0.45, P Conclusions and relevance Demonstrating long-term clinical benefit will be critical for the success of recently launched secondary prevention trials. 1 key finding →

Design: longitudinal study Participants: 468 Evidence: moderate

Full summary, score breakdown and related studies → Original source Free full text

The preclinical Alzheimer cognitive composite: measuring amyloid-related decline

✓ Peer-reviewed alzhub usefulness score 65 out of 100. JAMA neurology 2014-08-01

In ADNI, Aβ-positive participants showed more decline than did Aβ-negative participants with regard to the ADCS-PACC score at 24 months (mean [SE] difference, -1.239 [0.522] [95% CI, -2.263 to -0.215]; P = .02). 4 key findings →

Evidence: low

Full summary, score breakdown and related studies → Original source Free full text

Modification of the relationship of the apolipoprotein E ε4 allele to the risk of Alzheimer disease and neurofibrillary tangle density by sleep

✓ Peer-reviewed alzhub usefulness score 64 out of 100. JAMA neurology 2013-12-01

Better sleep consolidation attenuates the effect of APOE genotype on incident AD and development of neurofibrillary tangle pathology. 2 key findings →

Design: cohort study Participants: 698 Evidence: moderate

Full summary, score breakdown and related studies → Original source Free full text

Sex Differences in Amyloid Pathology by Race, Ancestry, and Apolipoprotein E ε4 in an Admixed Autopsy Sample

✓ Peer-reviewed alzhub usefulness score 63 out of 100. JAMA neurology 2026-04-01

Female individuals had higher plaque burden than male individuals (unadjusted odds ratio [OR], 1.97; 95% CI, 1.67-2.29; P Conclusions and relevance The findings indicate that female sex, APOEε4, and both race and African ancestry were jointly associated with amyloid in this study population. 3 key findings →

Design: cross-sectional Participants: 2,268 Evidence: moderate

Full summary, score breakdown and related studies → Original source Free full text

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Where “Free full text” comes from

Free full text links and the Full text may need a subscription label come from Unpaywall, Europe PMC and OpenAlex records of free copies, checked 10 Oct 2026. A study with neither is unknown, not paywalled. Show only studies that are free to read

How the 0–100 score works — and why some entries are capped

This is alzhub's own score. It is not an official metric, not an impact factor, and no journal, publisher or ranking body endorses it. We built it so that a reader who is not a scientist can tell a landmark trial from a conference abstract without having to already know the difference. Every point comes from one of 20 components, all of them printed on the study itself, so you can disagree with our arithmetic rather than having to trust the total.

  • Journal tier up to 10 pts
  • Journal's citation record up to 4 pts
  • Study design up to 12 pts
  • Strength of evidence up to 5 pts
  • Peer-review validation up to 10 pts
  • How recent up to 5 pts
  • Sample size up to 4 pts
  • Effect reported up to 3 pts
  • Studied in people up to 3 pts
  • Randomised / blinded up to 2 pts
  • Times cited up to 7 pts
  • Citations per year up to 5 pts
  • Impact for its field and year up to 6 pts
  • Cited by studies here up to 6 pts
  • Still being cited up to 4 pts
  • Senior author's track record up to 4 pts
  • Institution's track record up to 3 pts
  • Multi-centre collaboration up to 3 pts
  • Indexed in PubMed up to 2 pts
  • Free to read up to 2 pts

Journals are placed in ordered tiers, never given a numeric impact factor — we could not verify current impact factors from a source we control, and an invented one would be worse than none. Tier 1 is the top-tier general journals (NEJM, The Lancet, JAMA, Nature, Science, Nature Medicine); tier 2 is the leading specialty journals; tier 3 is every other peer-reviewed journal. A separate part scores how much the journal's own papers are cited, which tells the tier-3 journals apart.

Two rules we don't bend. First, we never fill in a missing value: if a record does not state a sample size or a design, that component scores zero, and if we simply have no data for a part, such as a citation count, that part is left out and the study is scored on the parts we could check. The study card says which. Second, anything that is not a peer-reviewed article is capped at 16/100 and carries a warning chip — so a conference abstract or a company press release can never outrank a peer-reviewed paper, no matter how good it looks.

We rank a rigorous null result — a good trial showing that something does not work — above an early positive finding. Someone deciding whether to buy a supplement is served by that, and the rigour is already counted by the design and journal components.

The score is computed from the published data alone and is reproducible: the same file always yields the same numbers.

See the whole rubric drawn out → — four charts covering all 27,380 studies: how the scores are spread and where the cap bites, which of the 20 components the library is strong and weak on, which subjects rest on stronger evidence, and what kinds of study each subject is actually built from.

What this library is — and isn't

This is a large sample of the Alzheimer's literature, not an exhaustive index of it. It holds 27,380 records, built mostly from automated pulls of Europe PMC (60.6% of the library) and OpenAlex (18.6%), plus smaller pulls from PubMed, Crossref and medRxiv. If a study, a drug, or a finding isn't here, that is not evidence it doesn't exist in the literature — it may simply not have been pulled in yet.

1,032 records (3.8% of the library) are not peer-reviewed — 962 of those are preprints posted before any journal review, and the rest are conference abstracts, regulatory notices and reports. Every study card on this page states its status plainly, and the score above is capped for anything that isn't a peer-reviewed article.

See the full, machine-readable breakdown of this library's coverage →

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