Topic: Amyloid, tau and blood-test diagnosis
Previous estimates of the utility of polygenic risk score analysis for the prediction of Alzheimer disease have given area under the curve (AUC) estimates of <80%. However, these have been based on the genetic analysis of clinical case-control series. Here, we apply the same analytic approaches to a pathological case-control series and show a predictive AUC of 84%. We suggest that this analysis has clinical utility and that there is limited room for further improvement using genetic data. Ann Neurol 2017;82:311-314.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Escott-Price, V., Myers, A. J., Huentelman, M., & Hardy, J. (2017). Polygenic risk score analysis of pathologically confirmed Alzheimer disease. Annals of neurology. https://doi.org/10.1002/ana.24999
Vancouver
Escott-Price V, Myers AJ, Huentelman M, Hardy J. Polygenic risk score analysis of pathologically confirmed Alzheimer disease. Annals of neurology. 2017. doi:10.1002/ana.24999. PMID: 28727176.
BibTeX
@article{escottprice2017-28727176,
author = {Escott-Price, V. and Myers, A. J. and Huentelman, M. and Hardy, J.},
title = {{Polygenic risk score analysis of pathologically confirmed Alzheimer disease}},
journal = {Annals of neurology},
year = {2017},
doi = {10.1002/ana.24999},
pmid = {28727176},
url = {https://doi.org/10.1002/ana.24999}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
Key findings
- We suggest that this analysis has clinical utility and that there is limited room for further improvement using genetic data.
Why it matters
Earlier studies that tested a polygenic risk score on clinically diagnosed patients reported prediction accuracy (AUC) below 80%. When the same methods were applied to people whose Alzheimer's was confirmed by pathology, this 2017 study reported an AUC of 84%. The authors "suggest that this analysis has clinical utility and that there is limited room for further improvement using genetic data". The figure describes how well the score separated patients from controls in this group, not any one person's chance of getting the disease, and the study addresses prediction only, not treatment or prevention.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Study designcase-control study
- Evidence strengthModerate
How this study scored 59/100
Published in a leading specialty journal, and it is a case-control study. Scored zero for sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Annals of neurology) |
| Journal's citation record | 3 / 4 | Annals of Neurology: journal h-index 437 (OpenAlex, 2026-10-29) |
| Study design | 6 / 12 | A case-control study |
| 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 | 2017 — within 10 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 | 5 / 7 | Cited 179 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 16.3 citations a year over 11 year(s) since 2017 |
| Impact for its field and year | 4 / 6 | Cited 11.7× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 10 other studies in this library |
| Still being cited | 2 / 4 | Cited 36 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author John Hardy: h-index 205 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Cardiff University: institution h-index 1,251 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 5 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 28727176) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 59 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
Full text: free to read — PubMed Central lists this copy as free to read: the link above (checked 10 Oct 2026).
Studies this one cites
Referenced by this study and also in the alzhub library, so you can read them here.
Later studies that cite this one
10 studies in the alzhub library list this one in their references. Showing the 8 highest-scoring.
Related studies in Genetics
Also in Genetics
173 studies in the library are filed under Genetics with no topic tag they share with another; these are this study's neighbours in a fixed tour of them. The Genetics hub.