Topic: Amyloid, tau and blood-test diagnosis
This study asked whether the genes that raise Alzheimer's risk are the same genes that cause amyloid plaques to build up in the brain, and found they are not quite the same thing. A combined genetic risk score improved prediction of who would get an Alzheimer's diagnosis, but it did not improve prediction of who would have amyloid plaques on a brain scan, suggesting some AD genetic risk works through pathways other than amyloid.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Leonenko, G., Shoai, M., Bellou, E., et al. (2019). Genetic risk for Alzheimer disease is distinct from genetic risk for amyloid deposition. Annals of Neurology. https://doi.org/10.1002/ana.25530
Vancouver
Leonenko G, Shoai M, Bellou E, et al. Genetic risk for Alzheimer disease is distinct from genetic risk for amyloid deposition. Annals of Neurology. 2019. doi:10.1002/ana.25530. PMID: 31199530.
BibTeX
@article{leonenko2019-0e415d77,
author = {Leonenko, G. and Shoai, M. and Bellou, E. and others},
title = {{Genetic risk for Alzheimer disease is distinct from genetic risk for amyloid deposition}},
journal = {Annals of Neurology},
year = {2019},
doi = {10.1002/ana.25530},
pmid = {31199530},
url = {https://doi.org/10.1002/ana.25530}
}
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Key findings
- 770 ADNI participants analyzed (174 AD, 344 MCI, 224 controls); 663 had amyloid PET data
- Combining APOE and polygenic risk score improved AD prediction from AUC 76% (APOE alone) to AUC 82%
- Polygenic risk score did not improve prediction of amyloid PET positivity beyond APOE alone (both AUC 76%)
- In amyloid-positive MCI patients, adding PRS to APOE improved prediction of progression to AD (AUC 63% to 69%, p=0.0002)
- Extreme (±1.5 SD) polygenic risk score distributions reached AUC 94% for AD vs controls
Why it matters
This study asked whether the genes that raise Alzheimer's risk are the same genes that cause amyloid plaques to build up in the brain, and found they are not quite the same thing. A combined genetic risk score improved prediction of who would get an Alzheimer's diagnosis, but it did not improve prediction of who would have amyloid plaques on a brain scan, suggesting some AD genetic risk works through pathways other than amyloid.
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Study details
- Study designcase-control
- Participants770
- Effect sizeAD vs controls: APOE alone AUC 76%, APOE+PRS AUC 82%; Amyloid deposition: APOE alone AUC 76%, PRS added no improvement; MCI-to-AD progression (amyloid-positive): APOE alone AUC 63%, full model AUC 69% (p=0.0002)
- Evidence strengthModerate
Limitations
Relatively small single-cohort (ADNI) sample, particularly for the amyloid-positive MCI subgroup (n=270); AUC estimates from a single cohort may not replicate precisely in independent populations.
How this study scored 66/100
Published in a leading specialty journal, and it is a case-control study. Scored zero for 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, still being cited, senior author's track record, institution's track record and multi-centre collaboration, so those were left out: it earned 42 of the 64 points we could judge it on, which is 66 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Annals of Neurology) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 | 2019 — within 10 year(s) of the newest study here |
| Sample size | 2 / 4 | 770 participants |
| Effect reported | 3 / 3 | Effect reported with a statistic (interval, p-value, ratio or similar) |
| 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 | 0 / 6 | No other study in this library cites it |
| 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 31199530) |
| Free to read | 2 / 2 | Free to read |
| Points | 42 / 64 | Scored on 12 of 20 parts. We have no data for the rest, so they are left out: 42 of the 64 points we could judge it on is 66 out of 100. |
| Total | 66 / 100 | — |
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