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Multiple gene variants linked to Alzheimer's-type clinical dementia via GWAS are also associated with non-Alzheimer's neuropathologic entities
Katsumata Y, Shade LM, Hohman TJ, Schneider JA, Bennett DA, Farfel JM, Alzheimer’s Disease Genetics Consortium, Kukull WA et al.. Neurobiology of disease, 2022-09-30
Topic: Amyloid, tau and blood-test diagnosis
The classic pathologic hallmarks of Alzheimer's disease (AD) are amyloid plaques and neurofibrillary tangles (AD neuropathologic changes, or ADNC). However, brains from individuals clinically diagnosed with "AD-type" (amnestic) dementia usually harbor heterogeneous neuropathologies in addition to, or other than, ADNC. We hypothesized that some AD-type dementia associated genetic single nucleotide variants (SNVs) identified from large genomewide association studies (GWAS) were associated with non-ADNC neuropathologies.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Katsumata, Y., Shade, L. M., Hohman, T. J., Schneider, J. A., Bennett, D. A., Farfel, J. M., et al. (2022). Multiple gene variants linked to Alzheimer's-type clinical dementia via GWAS are also associated with non-Alzheimer's neuropathologic entities. Neurobiology of disease. https://doi.org/10.1016/j.nbd.2022.105880
Vancouver
Katsumata Y, Shade LM, Hohman TJ, Schneider JA, Bennett DA, Farfel JM, et al. Multiple gene variants linked to Alzheimer's-type clinical dementia via GWAS are also associated with non-Alzheimer's neuropathologic entities. Neurobiology of disease. 2022. doi:10.1016/j.nbd.2022.105880. PMID: 36191742.
BibTeX
@article{katsumata2022-36191742,
author = {Katsumata, Y. and Shade, L. M. and Hohman, T. J. and Schneider, J. A. and Bennett, D. A. and Farfel, J. M. and {Alzheimer’s Disease Genetics Consortium} and Kukull, W. A. and others},
title = {{Multiple gene variants linked to Alzheimer's-type clinical dementia via GWAS are also associated with non-Alzheimer's neuropathologic entities}},
journal = {Neurobiology of disease},
year = {2022},
doi = {10.1016/j.nbd.2022.105880},
pmid = {36191742},
url = {https://doi.org/10.1016/j.nbd.2022.105880}
}
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Key findings
- However, brains from individuals clinically diagnosed with "AD-type" (amnestic) dementia usually harbor heterogeneous neuropathologies in addition to, or other than, ADNC.
- We hypothesized that some AD-type dementia associated genetic single nucleotide variants (SNVs) identified from large genomewide association studies (GWAS) were associated with non-ADNC neuropathologies.
- To test this hypothesis, we analyzed data from multiple studies with available genotype and neuropathologic phenotype information.
- Clinical AD/dementia risk alleles of interest were derived from the very large GWAS by Bellenguez et al.
Why it matters
This study found that some gene variants linked to Alzheimer's-type dementia are also associated with other brain pathologies besides the classic amyloid plaques and tangles. It does not show that targeting these genes prevents or treats dementia.
Study details
- Participants273
- Evidence strengthModerate
How this study scored 56/100
Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neurobiology of disease) |
| Journal's citation record | 2 / 4 | Neurobiology of Disease: journal h-index 225 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| 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 | 3 / 5 | 2022 — within 6 year(s) of the newest study here |
| Sample size | 2 / 4 | 273 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 50 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 8.3 citations a year over 6 year(s) since 2022 |
| Impact for its field and year | 3 / 6 | Cited 4.9× 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 43 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Peter T. Nelson: h-index 92 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | University of Washington: institution h-index 3,540 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 4 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 36191742) |
| Free to read | 2 / 2 | Free to read |
| Total | 56 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1016/j.nbd.2022.105880
- PubMed: 36191742
- Original source →
- Free full text: Neurobiology of Disease →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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