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59/100

✓ Peer-reviewed alzhub usefulness score 59 out of 100. Mild cognitive impairment

Topic: Amyloid, tau and blood-test diagnosis

Background Alzheimer's disease (AD) is a chronic progressive neurodegenerative disease impacting an estimated 44 million adults worldwide. The causal pathology of AD (accumulation of amyloid-beta and tau), precedes hallmark symptoms of dementia by more than a decade, necessitating development of early diagnostic markers of disease onset, particularly for new drugs that aim to modify disease processes. To evaluate differentially methylated positions (DMPs) as novel blood-based biomarkers of AD, we used a subset of 653 individuals with peripheral blood (PB) samples in the Alzheimer's disease Neuroimaging Initiative (ADNI) consortium. The selected cohort of AD, mild cognitive impairment (MCI), and age-matched healthy controls (CN) all had imaging, genetics, transcriptomics, cerebrospinal protein markers, and comprehensive clinical records, providing a rich resource of concurrent multi-omics and phenotypic information on a well-phenotyped subset of ADNI participants. Results In this manuscript, we report cross-diagnosis differential peripheral DNA methylation in a cohort of AD, MCI, and age-matched CN individuals with longitudinal DNA methylation measurements. Epigenome-wide association studies (EWAS) were performed using a mixed model with repeated measures over time with a P value cutoff of 1 × 10 -5 to test contrasts of pairwise differential peripheral methylation in AD vs CN, AD vs MCI, and MCI vs CN. The most highly significant differentially methylated loci also tracked with Mini Mental State Examination (MMSE) scores. Differentially methylated loci were enriched near brain and neurodegeneration-related genes (e.g., BDNF, BIN1, APOC1) validated using the genotype tissue expression project portal (GTex). Conclusions Our work shows that peripheral differential methylation between age-matched subjects with AD relative to healthy controls will provide opportunities to further investigate and validate differential methylation as a surrogate of disease. Given the inaccessibility of brain tissue, the PB-associated methylation marks may help identify the stage of disease and progression phenotype, information that would be central to bringing forward successful drugs for AD.

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APA 7th

Vasanthakumar, A., Davis, J. W., Idler, K., Waring, J. F., Asque, E., Riley-Gillis, B., et al. (2020). Harnessing peripheral DNA methylation differences in the Alzheimer's Disease Neuroimaging Initiative (ADNI) to reveal novel biomarkers of disease. Clinical epigenetics. https://doi.org/10.1186/s13148-020-00864-y

Vancouver

Vasanthakumar A, Davis JW, Idler K, Waring JF, Asque E, Riley-Gillis B, et al. Harnessing peripheral DNA methylation differences in the Alzheimer's Disease Neuroimaging Initiative (ADNI) to reveal novel biomarkers of disease. Clinical epigenetics. 2020. doi:10.1186/s13148-020-00864-y. PMID: 32539856.

BibTeX

@article{vasanthakumar2020-32539856,
  author  = {Vasanthakumar, A. and Davis, J. W. and Idler, K. and Waring, J. F. and Asque, E. and Riley-Gillis, B. and Grosskurth, S. and Srivastava, G. and others},
  title   = {{Harnessing peripheral DNA methylation differences in the Alzheimer's Disease Neuroimaging Initiative (ADNI) to reveal novel biomarkers of disease}},
  journal = {Clinical epigenetics},
  year    = {2020},
  doi     = {10.1186/s13148-020-00864-y},
  pmid    = {32539856},
  url     = {https://doi.org/10.1186/s13148-020-00864-y}
}

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Key findings

Results In this manuscript, we report cross-diagnosis differential peripheral DNA methylation in a cohort of AD, MCI, and age-matched CN individuals with longitudinal DNA methylation measurements.
The most highly significant differentially methylated loci also tracked with Mini Mental State Examination (MMSE) scores.

Why it matters

This study found differences in DNA methylation in blood between people with Alzheimer's disease, mild cognitive impairment, and healthy controls, and the most significant methylation sites also tracked with cognitive test scores. These findings are preliminary and need further study before blood methylation could be used as an early diagnostic marker.

Study details

Study designlongitudinal study
Participants653
Evidence strengthModerate

How this study scored 59/100

Published in a peer-reviewed journal, and it is a longitudinal study following the same people over time. Scored zero for effect reported and randomised / blinded because the record does not state it. We have no data on senior author's track record, so that was left out: it earned 57 of the 96 points we could judge it on, which is 59 out of 100.

Component	Points	Why
Journal tier	7 / 10	Tier 3 — peer-reviewed journal (Clinical epigenetics)
Journal's citation record	1 / 4	Clinical Epigenetics: journal h-index 114 (OpenAlex, 2026-10-29)
Study design	7 / 12	A longitudinal study following the same people over time
Strength of evidence	3 / 5	Rated “moderate” in our summary
Peer-review validation	10 / 10	Peer-reviewed. Published as an article in a named peer-reviewed journal.
How recent	2 / 5	2020 — within 10 year(s) of the newest study here
Sample size	2 / 4	653 participants
Effect reported	0 / 3	No effect size reported — scores zero (not stated in the record — scored 0)
Studied in people	3 / 3	Studied in people (participant count stated)
Randomised / blinded	0 / 2	No randomisation or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	4 / 7	Cited 97 times (OpenAlex, 2026-10-10)
Citations per year	3 / 5	12.1 citations a year over 8 year(s) since 2020
Impact for its field and year	4 / 6	Cited 8.2× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	2 / 6	Cited by 3 other studies in this library
Still being cited	2 / 4	Cited 47 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	— / 4	Senior author's record not available — left out of this score
Institution's track record	1 / 3	Indiana University School of Medicine: institution h-index 784 (OpenAlex)
Multi-centre collaboration	2 / 3	OpenAlex lists 7 institution(s) in 1 country
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 32539856)
Free to read	2 / 2	Free to read
Points	57 / 96	Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 57 of the 96 points we could judge it on is 59 out of 100.
Total	59 / 100	—

What each of these 20 components measures, and what this score is not →

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