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Genetic and environmental contributions to variation in plasma phosphorylated tau 217
Rebecca Z Rousset, Conor V Dolan, David H Wilson, Lisanne In 't Veld, Lannie Ligthart, Charlotte E Teunissen, Eco J C de Geus, Anouk den Braber. Alzheimer's & dementia : the journal of the Alzheimer's Association, 2025-11
Topic: Plasma and spinal-fluid biomarkers
Genetic contributions accounted for 42% (males) and 41% (females) of variance in p-tau217. Half of the genetic effects were sex specific. Genetic and environmental contributions to p-tau217 were partially shared with NfL, GFAP, and Aβ42/40, but different patterns were found in males and females. P-tau217 concentrations are moderately heritable. Sex-specific genetic influences are found to act on p-tau217. In cognitively unimpaired participants, p-tau217 and Aβ42/40 reflect different biological processes. HIGHLIGHTS: Phosphorylated tau (p-tau)217 concentrations are substantially heritable (> 41%). Genetic contributions to variation in plasma p-tau217 were found to be sex specific. Genetic and environmental correlations were found between p-tau217 and Alzheimer's disease biomarkers. P-tau217 reflects different processes in cognitively unimpaired males and females.
Key findings
- Genetic contributions accounted for 42% (males) and 41% (females) of variance in p-tau217.
- Half of the genetic effects were sex specific.
- Genetic and environmental contributions to p-tau217 were partially shared with NfL, GFAP, and Aβ42/40, but different patterns were found in males and females.
- P-tau217 concentrations are moderately heritable.
- Sex-specific genetic influences are found to act on p-tau217.
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Study details
- Participants6,495
- Evidence strengthLow
How this study scored 57/100
Published in a leading specialty journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record, multi-centre collaboration and free to read, so those were left out: it earned 32 of the 56 points we could judge it on, which is 57 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Alzheimer's & dementia : the journal of the Alzheimer's Association) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 | 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 | 3 / 4 | 6,495 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 | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| 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 | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 41231229) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 32 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 32 of the 56 points we could judge it on is 57 out of 100. |
| Total | 57 / 100 | — |
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Cite this study APA, Vancouver, BibTeX · download .bib or .ris
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 names 8 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
APA 7th
Rousset, R. Z., Dolan, C. V., Wilson, D. H., Veld, L. I. '., Ligthart, L., Teunissen, C. E., et al. (2025). Genetic and environmental contributions to variation in plasma phosphorylated tau 217. Alzheimer's & dementia : the journal of the Alzheimer's Association. https://doi.org/10.1002/alz.70906
Vancouver
Rousset RZ, Dolan CV, Wilson DH, Veld LI', Ligthart L, Teunissen CE, et al. Genetic and environmental contributions to variation in plasma phosphorylated tau 217. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2025. doi:10.1002/alz.70906. PMID: 41231229.
BibTeX
@article{rousset2025-41231229,
author = {Rousset, Rebecca Z and Dolan, Conor V and Wilson, David H and Veld, Lisanne In 't and Ligthart, Lannie and Teunissen, Charlotte E and de Geus, Eco J C and den Braber, Anouk},
title = {{Genetic and environmental contributions to variation in plasma phosphorylated tau 217}},
journal = {Alzheimer's \& dementia : the journal of the Alzheimer's Association},
year = {2025},
doi = {10.1002/alz.70906},
pmid = {41231229},
url = {https://doi.org/10.1002/alz.70906}
}