ArticleJournal of Alzheimer's disease : JAD2017
Genetic Risk as a Marker of Amyloid-β and Tau Burden in Cerebrospinal Fluid.
Article in Journal of Alzheimer's disease : JAD, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- From Polygenic Scores to Precision Medicine in Alzheimer's Disease: A Systematic Review.Journal of Alzheimer's disease : JAD · 2020Pooled it
- Sex Differences in Apolipoprotein E and Alzheimer Disease Pathology Across Ancestries.JAMA network open · 2025Article
- Alzheimer's polygenic risk scores, APOE, Alzheimer's disease risk, and dementia-related blood biomarker levels in a population-based cohort study followed over 17 years.Alzheimer's research & therapy · 2023Article
- Modern Approaches to the Diagnosis of Cognitive Impairment and Alzheimer's Disease: A Narrative Literature Review.Consortium psychiatricum · 2023Review
- Genetic predisposition, Aβ misfolding in blood plasma, and Alzheimer's disease.Translational psychiatry · 2021Article
- Early detection and personalized medicine: Future strategies against Alzheimer's disease.Progress in molecular biology and translational science · 2021Article
- Machine learning approaches to predicting amyloid status using data from an online research and recruitment registry: The Brain Health Registry.Alzheimer's & dementia (Amsterdam, Netherlands) · 2021Article
- Predicting amyloid status using self-report information from an online research and recruitment registry: The Brain Health Registry.Alzheimer's & dementia (Amsterdam, Netherlands) · 2020Article
- The Contribution of Genetic Factors to Cognitive Impairment and Dementia: Apolipoprotein E Gene, Gene Interactions, and Polygenic Risk.International journal of molecular sciences · 2019Review
- Polygenic hazard score, amyloid deposition and Alzheimer's neurodegeneration.Brain : a journal of neurology · 2019Article
- Polygenic hazard score: an enrichment marker for Alzheimer's associated amyloid and tau deposition.Acta neuropathologica · 2018Article
- A Blood Test for Alzheimer's Disease: Progress, Challenges, and Recommendations.Journal of Alzheimer's disease : JAD · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 3 countries.
Funding
Abstract
backgroundThe search for a biomarker of Alzheimer's disease (AD) pathology (amyloid-β (Aβ) and tau) is ongoing, with the best markers currently being measurements of Aβ and tau in cerebrospinal fluid (CSF) and via positron emission tomography (PET) scanning. These methods are relatively invasive, costly, and often have high screening failure rates. Consequently, research is aiming to elucidate blood biomarkers of Aβ and tau.
objectiveThis study aims to investigate a case/control polygenic risk score (PGRS) as a marker of tau and investigate blood markers of a combined Aβ and tau outcome for the first time. A sub-study also considers plasma tau as markers of Aβ and tau pathology in CSF.
methodsWe used data from the EDAR*, DESCRIPA**, and Alzheimer's Disease Neuroimaging Initiative (ADNI) cohorts in a logistic regression analysis to investigate blood markers of Aβ and tau in CSF. In particular, we investigated the extent to which a case/control PGRS is predictive of CSF tau, CSF amyloid, and a combined amyloid and tau outcome. The predictive ability of models was compared to that of age, gender, and APOE genotype ('basic model').
resultsIn EDAR and DESCRIPA test data, inclusion of a case/control PGRS was no more predictive of Aβ, and a combined Aβ and tau endpoint than the basic models (accuracies of 66.0%, and 73.3% respectively). The tau model saw a small increase in accuracy compared to basic models (59.6%). ADNI 2 test data also showed a slight increase in accuracy for the Aβ model when compared to the basic models (61.4%).
conclusionWe see some evidence that a case/control PGRS is marginally more predictive of Aβ and tau pathology than the basic models. The search for predictive factors of Aβ and tau pathologies, above and beyond demographic information, is still ongoing. Better understanding of AD risk alleles, development of more sensitive assays, and studies of larger sample size are three avenues that may provide such factors. However, the clinical utility of possible predictors of brain Aβ and tau pathologies must also be investigated.*'Beta amyloid oligomers in the early diagnosis of AD and as marker for treatment response'**'Development of screening guidelines and criteria for pre-dementia Alzheimer's disease'.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.