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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 101 studies in Genetics · tagged Biomarkers (page 1 of 5) · 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.

Proteomic landscape of Alzheimer's Disease: novel insights into pathogenesis and biomarker discovery

✓ Peer-reviewed alzhub usefulness score 83 out of 100. Molecular neurodegeneration 2021-08-12

Mass spectrometry-based proteomics empowers deep profiling of proteome and protein posttranslational modifications (PTMs) in Alzheimer's disease (AD). 5 key findings →

Design: meta-analysis Participants: 12,017 Evidence: high

Full summary, score breakdown and related studies → Original source

Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers

✓ Peer-reviewed alzhub usefulness score 73 out of 100. Acta neuropathologica 2022-09-06

Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer's disease (AD) more directly than clinical diagnosis. 2 key findings →

Participants: 8,074 Evidence: low

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

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

Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers

✓ Peer-reviewed alzhub usefulness score 71 out of 100. Acta neuropathologica 2017-02-28

More than 20 genetic loci have been associated with risk for Alzheimer's disease (AD), but reported genome-wide significant loci do not account for all the estimated heritability and provide little information about underlying biological mechanisms. 5 key findings →

Design: case-control study Participants: 3,146 Evidence: moderate

Full summary, score breakdown and related studies → Original source

Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status

✓ Peer-reviewed alzhub usefulness score 69 out of 100. Acta neuropathologica 2016-01-11

Low frequency coding variants in TREM2 are associated with increased Alzheimer disease (AD) risk, while loss of functions mutations in the gene lead to an autosomal recessive early-onset dementia, named Nasu-Hakola disease (NHD). 5 key findings →

Design: case-control study Participants: 180 Evidence: moderate

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

Serum triglycerides in Alzheimer disease: Relation to neuroimaging and CSF biomarkers

✓ Peer-reviewed alzhub usefulness score 68 out of 100. Neurology 2020-05-01

This study shows that PUTG component scores were significantly associated with diagnostic group and AD biomarkers, a finding that was more pronounced in APOE ε4 carriers. 5 key findings →

Design: longitudinal study Participants: 689 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

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

Dissection of synaptic pathways through the CSF biomarkers for predicting Alzheimer disease

✓ Peer-reviewed alzhub usefulness score 65 out of 100. Neurology 2020-06-25

All synaptic biomarkers tested had a good discriminatory power to distinguish patients with AD abnormal CSF from those with non-AD disorders. 4 key findings →

Design: cross-sectional Participants: 81 Evidence: moderate

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

Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites

✓ Peer-reviewed alzhub usefulness score 64 out of 100. Molecular psychiatry 2011-03-15

Two multicentre genome-wide association (GWA) studies provided substantial evidence, implicating the complement receptor 1 gene (CR1) in Alzheimer disease (AD) genetic etiology. 3 key findings →

Participants: 1,883 Evidence: moderate

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

Genome-wide association study of Alzheimer's disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset

✓ Peer-reviewed alzhub usefulness score 63 out of 100. Translational psychiatry 2020-11-22

Alzheimer's disease (AD) is the most prevalent neurodegenerative disorder and the most common form of dementia in the elderly. 2 key findings →

Design: case-control study Participants: 931 Evidence: moderate

Full summary, score breakdown and related studies → Original source

Odor identification as a biomarker of preclinical AD in older adults at risk

✓ Peer-reviewed alzhub usefulness score 62 out of 100. Neurology 2017-06-28

These findings from healthy high-risk older individuals suggest that OI reflects degree of preclinical AD pathology, while its relationships with age and cognition result from the association of these latter variables with such pathology. 3 key findings →

Design: cross-sectional Participants: 101 Evidence: moderate

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

Nonlinear Association Between Cerebrospinal Fluid and Florbetapir F-18 β-Amyloid Measures Across the Spectrum of Alzheimer Disease

✓ Peer-reviewed alzhub usefulness score 61 out of 100. JAMA neurology 2015-05-01

The association between both biomarkers is limited to a middle range of values, is modified by the APOE genotype, and is absent for longitudinal changes; 4 different approaches in 2 different platforms converge on similar pathological Aβ cutoff levels; and different pipelines to process PET scans showed correlated but not identical results. 5 key findings →

Design: cohort study Participants: 820 Evidence: moderate

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

β-Amyloid and tau biomarkers and clinical phenotype in dementia with Lewy bodies

✓ Peer-reviewed alzhub usefulness score 60 out of 100. Neurology 2020-09-28

Alzheimer disease pathologic changes are common in DLB and are associated with the clinical phenotype. β-Amyloid is associated with cognitive impairment, and tau pathology is associated with lower frequency of clinical features of DLB. 5 key findings →

Participants: 417 Evidence: moderate

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

Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort

✓ Peer-reviewed alzhub usefulness score 59 out of 100. Neurology 2010-12-01

In addition to known candidate genes, APOE, TOMM40, and one hypothetical gene LOC100129500 partially overlapping APOE; one novel gene, EPC2, and several other interesting genes were associated with CSF biomarkers that are related to AD. 3 key findings →

Participants: 374 Evidence: moderate

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

Genome-wide association of tau neuroimaging and plasma biomarkers in adults with Down syndrome

✓ Peer-reviewed alzhub usefulness score 59 out of 100. Alzheimer's & dementia : the journal of the Alzheimer's Association 2025-07

Three genome-wide significant associations were identified for p-tau181: TUBAP/rs76523946, P = 2.21E-08; CTNND2/rs142510573, P = 3.04E-08; CLSTN2/rs112448655, P = 3.04E-08, and one for t-tau (JHY/rs77264104, P = 2.84E-08). 5 key findings →

Participants: 375 Evidence: moderate

Full summary, score breakdown and related studies → Original source

A genome-wide association study of longitudinal change in CSF tau among non-demented elderly

✓ Peer-reviewed alzhub usefulness score 59 out of 100. Bratislavske lekarske listy 2024

The GWAS identified a significant single nucleotide polymorphism (SNP), rs17149074, within the C9orf171 (CFAP77) gene region that showed significant association with changes in CSF t-tau over time. 4 key findings →

Design: longitudinal study Evidence: moderate

Full summary, score breakdown and related studies → Original source

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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 →

Newest studies, as a dated timeline →    Atom feed