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Genetic associations with EEG signatures in mild cognitive impairment: insights into Alzheimer's disease pathophysiology
Siitonen, A. M.; Saarinen, T.; Liljestrom, M.; Kinnunen, A. S.; Heikkinen, V.; Pashootan, M.; Kanerva, N.; Kulashekhar et al.. medRxiv (preprint), 2026-08-28
Topic: Amyloid, tau and blood-test diagnosis
Genome-wide genotypes were quality-controlled, imputed, functionally annotated (yielding 16,935 gene regions comprising 90,607 functional variants), and associated with latent EEG features using Bayesian reduced rank regression. We integrated the results with neurobiology-related literature review and known AD-associated loci and performed unsupervised clustering of participants based on EEG-associated genetic variation, testing clinical and biomarker differences between clusters. We identified 145 genes associated with periodic EEG features and 39 genes with aperiodic EEG features at P < 0.005, although no associations survived correction for multiple testing. Candidate genes converged on pathways for synaptic transmission, neuronal excitability and neurodevelopment (e.g., RASGEF1C and TREML2 mapped to loci previously associated with AD). Unsupervised clustering based on periodic EEG-associated variants delineated participant subgroups differing significantly in plasma p-tau217 concentrations and delayed verbal recall after multiple-testing correction. These findings suggest that periodic and aperiodic EEG features capture partly distinct biological processes within the MCI continuum.
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APA 7th
Siitonen, A. M., Saarinen, T., Liljestrom, M., Kinnunen, A. S., Heikkinen, V., Pashootan, M., et al. (2026). Genetic associations with EEG signatures in mild cognitive impairment: insights into Alzheimer's disease pathophysiology. medRxiv (preprint). https://doi.org/10.64898/2026.08.25.26361294
Vancouver
Siitonen AM, Saarinen T, Liljestrom M, Kinnunen AS, Heikkinen V, Pashootan M, et al. Genetic associations with EEG signatures in mild cognitive impairment: insights into Alzheimer's disease pathophysiology. medRxiv (preprint). 2026. doi:10.64898/2026.08.25.26361294.
BibTeX
@article{siitonen2026-0f6728d2,
author = {Siitonen, A. M. and Saarinen, T. and Liljestrom, M. and Kinnunen, A. S. and Heikkinen, V. and Pashootan, M. and Kanerva, N. and Kulashekhar and others},
title = {{Genetic associations with EEG signatures in mild cognitive impairment: insights into Alzheimer's disease pathophysiology}},
journal = {medRxiv (preprint)},
year = {2026},
doi = {10.64898/2026.08.25.26361294},
url = {https://doi.org/10.64898/2026.08.25.26361294}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
Key findings
- Genome-wide genotypes were quality-controlled, imputed, functionally annotated (yielding 16,935 gene regions comprising 90,607 functional variants), and associated with latent EEG features using Bayesian reduced rank regression.
- We integrated the results with neurobiology-related literature review and known AD-associated loci and performed unsupervised clustering of participants based on EEG-associated genetic variation, testing clinical and biomarker differences between clusters.
- We identified 145 genes associated with periodic EEG features and 39 genes with aperiodic EEG features at P < 0.005, although no associations survived correction for multiple testing.
- Candidate genes converged on pathways for synaptic transmission, neuronal excitability and neurodevelopment (e.g., RASGEF1C and TREML2 mapped to loci previously associated with AD).
- Unsupervised clustering based on periodic EEG-associated variants delineated participant subgroups differing significantly in plasma p-tau217 concentrations and delayed verbal recall after multiple-testing correction.
Why it matters
This study identified genes associated with periodic and aperiodic EEG features in mild cognitive impairment, though no associations survived correction for multiple testing, and clustering based on these variants delineated subgroups differing in p-tau217 and verbal recall. These are preliminary genetic-EEG findings, not a treatment or cure.
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Study details
- Evidence strengthLow
How this study scored 16/100
Preprint — not yet peer-reviewed. It scored 21 on the same rubric, but non-peer-reviewed sources are capped at 16, so it shows as 16. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it. We have no data on impact for its field and year, so that was left out: it earned 20 of the 94 points we could judge it on, which is 21 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 2 / 10 | Tier 4 — not a peer-reviewed journal (medRxiv (preprint)) |
| Journal's citation record | 0 / 4 | Not a journal article, so the journal's record does not count |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 4 / 10 | Preprint — not yet peer-reviewed. Hosted on a preprint server. |
| How recent | 5 / 5 | 2026 — within 1 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 0 / 7 | Cited 0 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.0 citations a year over 2 year(s) since 2026 |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 0 / 4 | Cited 0 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 1 / 4 | Last-listed author Hanna Renvall: h-index 17 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of Helsinki: institution h-index 1,201 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 14 institution(s) in 4 countries |
| Indexed in PubMed | 1 / 2 | Not in PubMed, but has a DOI |
| Free to read | 2 / 2 | Free to read |
| Points | 20 / 94 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 20 of the 94 points we could judge it on is 21 out of 100. |
| Total | 21 / 100 | Capped to 16 because this is not a peer-reviewed article. |
What each of these 20 components measures, and what this score is not →
Read the original
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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