Identification of genetic modifiers influencing disease risk in autosomal dominant Alzheimer disease mutation carriers
Maulikkumar Patel, Arda Cetin, Matthew Johnson, Natalie Sarah Ryan, John Budde, Menghan Liu, Jorge J. Llibre‐Guerra, John C. Morris et al.. Alzheimer s & Dementia, 2025-12-01
Topic: Amyloid, tau and blood-test diagnosis
Results We identified four genome‐wide significant loci associated with AD risk (Table 1, Figure 1). Finally, at the RHOJ locus, the rare allele was associated with increased tTau ( p ‐value=4.74×10 ‐05 ) and pTau181 ( p ‐value=4.07×10 ‐07 ), and decreased Aβ42/40 ratio ( p ‐value=4.32×10 ‐05 ).
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Patel, M., Cetin, A., Johnson, M., Ryan, N. S., Budde, J., Liu, M., et al. (2025). Identification of genetic modifiers influencing disease risk in autosomal dominant Alzheimer disease mutation carriers. Alzheimer s & Dementia. https://doi.org/10.1002/alz70855_105550
Vancouver
Patel M, Cetin A, Johnson M, Ryan NS, Budde J, Liu M, et al. Identification of genetic modifiers influencing disease risk in autosomal dominant Alzheimer disease mutation carriers. Alzheimer s & Dementia. 2025. doi:10.1002/alz70855_105550. PMID: 41442552.
BibTeX
@article{patel2025-41442552,
author = {Patel, Maulikkumar and Cetin, Arda and Johnson, Matthew and Ryan, Natalie Sarah and Budde, John and Liu, Menghan and Llibre‐Guerra, Jorge J. and Morris, John C. and others},
title = {{Identification of genetic modifiers influencing disease risk in autosomal dominant Alzheimer disease mutation carriers}},
journal = {Alzheimer s \& Dementia},
year = {2025},
doi = {10.1002/alz70855_105550},
pmid = {41442552},
url = {https://doi.org/10.1002/alz70855_105550}
}
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
- Results We identified four genome‐wide significant loci associated with AD risk (Table 1, Figure 1).
- Finally, at the RHOJ locus, the rare allele was associated with increased tTau ( p ‐value=4.74×10 ‐05 ) and pTau181 ( p ‐value=4.07×10 ‐07 ), and decreased Aβ42/40 ratio ( p ‐value=4.32×10 ‐05 ).
Why it matters
Four genome-wide significant loci associated with Alzheimer's disease risk were identified in autosomal dominant mutation carriers. At the RHOJ locus, the rare allele was associated with increased tau and decreased Aβ42/40 ratio.
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Study details
- Participants91
- Evidence strengthModerate
How this study scored 40/100
Published in a peer-reviewed journal. Scored zero for study design, 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 38 of the 96 points we could judge it on, which is 40 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Alzheimer s & Dementia) |
| Journal's citation record | 2 / 4 | Alzheimer s & Dementia: journal h-index 228 (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 | 4 / 5 | 2025 — within 3 year(s) of the newest study here |
| Sample size | 1 / 4 | 91 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 | 0 / 7 | Cited 0 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.0 citations a year over 3 year(s) since 2025 |
| Impact for its field and year | 0 / 6 | Cited 0.0× the average for papers of its field and year (OpenAlex FWCI) |
| 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 | — / 4 | OpenAlex's profile for last-listed author Dominantly Inherited Alzheimer Network (DIAN) holds only 5 work(s), too few to judge a track record — left out of this score |
| Institution's track record | 2 / 3 | University College London: institution h-index 2,029 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 6 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 41442552) |
| Free to read | 2 / 2 | Free to read |
| Points | 38 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 38 of the 96 points we could judge it on is 40 out of 100. |
| Total | 40 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1002/alz70855_105550
- PubMed: 41442552
- Original source →
- Free full text: Alzheimer s & Dementia →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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