Blood DNA methylation signatures to detect dementia prior to overt clinical symptoms
Open accessAbstract
Introduction This study determined whether blood DNA methylation (DNAm) patterns differentiate individuals with presymptomatic dementia compared to controls. Methods DNAm was measured in 73 individuals prior to dementia diagnosis and 87 cognitively healthy controls matched for age, sex, smoking, education, and baseline cognition. DNAm was also measured at 3 years follow-up in 25 dementia cases, and 24 controls. Results Cases and controls differed in DNAm (unadjusted P < .01) at the time of diagnosis (n = 28,787 probes), and pre-diagnosis (n = 15,111 probes), with cg01404610 (General transcription factor IIA subunit 1 gene) significant after correction for multiple testing. Overall, 1150 probes overlapped between analyses (methylation differences from –10.6% to +11.0%), and effect sizes increased from pre-diagnosis to diagnosis. Discussion Discernible blood DNAm signatures are in dementia cases before the appearance of overt clinical symptoms. Blood-based methylation may serve as a potential biomarker of dementia, but further investigation is needed to determine their true clinical utility.
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DNA methylation alterations can be detected in the blood of AD subjects.
“and can also be detected in the blood of AD subjects [25–31].”
From Distinct sex-specific DNA methylation differences in Alzheimer’s disease (2022) · cites this paper as [26]
The Highlights report that blood DNA methylation differs between dementia cases and controls. The Discussion says the study could not distinguish cases by the underlying cause of dementia, so its findings do not establish the alteration specifically in AD subjects. Page numbers were not available in our copy. (LLM, conf=0.88)
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- Authors
- Fransquet, P. D., Lacaze, P., Saffery, R., Phung, J., Parker, E., Shah, R., Murray, A., Woods, R. L., & Ryan, J.
- Affiliations
- Monash University (AU)
- The University of Melbourne (AU)
- Rush University Medical Center (US)
- University of Minnesota (US)
- Inserm (FR)
- Corresponding author
- Ryan, Joanne
- ORCID
- Venue
- Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
- Publisher
- Wiley
- Published
- 2020-01
- Volume
- 12
- Issue
- 1
- Pages
- e12056-e12056
- ISSN
- 2352-8729 (ISSN-L)
- PMC
- PMC7346866
- OpenAlex
- W3041867596
- Cited by
- 36
- References
- 49
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 6 · 2023: 8 · 2022: 10 · 2021: 4 · 2020: 1
- FWCI
- 4.20
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Monash University Research Portal (Monash University) (submittedVersion, cc-by-nc)
- Minerva Access (University of Melbourne) (submittedVersion, cc-by-nc)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Own your potential (DEAKIN) (submittedVersion)
- Figshare (submittedVersion, cc-by-nc)
- Funders
- National Institutes of Health (U01AG029824)
- National Health and Medical Research Council (334047, 1127060, APP1135727)
- Victorian Cancer Agency
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- blood DNA methylation, dementia biomarkers, epigenetic signatures, early detection of dementia, longitudinal methylation changes
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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