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Late onset Alzheimer's disease genetics implicates microglial pathways in disease risk
Efthymiou AG, Goate AM.. Molecular neurodegeneration, 2017-05-26
Topic: Amyloid, tau and blood-test diagnosis
Alzheimer's disease (AD) is a highly heritable complex disease with no current effective prevention or treatment. The majority of drugs developed for AD focus on the amyloid cascade hypothesis, which implicates Aß plaques as a causal factor in the disease. However, it is possible that other underexplored disease-associated pathways may be more fruitful targets for drug development.
Key findings
- The majority of drugs developed for AD focus on the amyloid cascade hypothesis, which implicates Aß plaques as a causal factor in the disease.
- However, it is possible that other underexplored disease-associated pathways may be more fruitful targets for drug development.
- Findings from gene network analyses implicate immune networks as being enriched in AD; many of the genes in these networks fall within genomic regions that contain common and rare variants that are associated with increased risk of developing AD.
- Of these genes, several (including CR1, SPI1, the MS4As, TREM2, ABCA7, CD33, and INPP5D) are expressed by microglia, the resident immune cells of the brain.
Why it matters
This 2017 review reports that gene network analyses find immune networks "enriched in AD," and that many of these genes lie in genomic regions with common and rare variants associated with higher Alzheimer's risk. It notes that several of them — including CR1, SPI1, the MS4As, TREM2, ABCA7, CD33 and INPP5D — are expressed by microglia, the brain's resident immune cells, and suggests that such less-explored pathways "may be more fruitful targets for drug development" than the amyloid cascade alone. It is a review of association findings with no new data, and it does not report a treatment, cure or prevention.
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Study details
- Evidence strengthLow
How this study scored 54/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Molecular neurodegeneration) |
| Journal's citation record | 2 / 4 | Molecular Neurodegeneration: journal h-index 164 (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 | 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 | 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 | 6 / 7 | Cited 560 times (OpenAlex, 2026-10-10) |
| Citations per year | 5 / 5 | 50.9 citations a year over 11 year(s) since 2017 |
| Impact for its field and year | 5 / 6 | Cited 26.2× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 4 / 6 | Cited by 46 other studies in this library |
| Still being cited | 3 / 4 | Cited 175 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Alison Goate: h-index 156 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Icahn School of Medicine at Mount Sinai: institution h-index 1,331 (OpenAlex) |
| Multi-centre collaboration | 0 / 3 | OpenAlex lists 1 institution(s) in 1 country — scores zero (affiliation lists can be incomplete) |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 28549481) |
| Free to read | 2 / 2 | Free to read |
| Total | 54 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1186/s13024-017-0184-x
- PubMed: 28549481
- Original source →
- Free full text: Molecular Neurodegeneration →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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. Check the citation against the original before you use it.
APA 7th
Efthymiou, A. G., & Goate, A. M. (2017). Late onset Alzheimer's disease genetics implicates microglial pathways in disease risk. Molecular neurodegeneration. https://doi.org/10.1186/s13024-017-0184-x
Vancouver
Efthymiou AG, Goate AM. Late onset Alzheimer's disease genetics implicates microglial pathways in disease risk. Molecular neurodegeneration. 2017. doi:10.1186/s13024-017-0184-x. PMID: 28549481.
BibTeX
@article{efthymiou2017-28549481,
author = {Efthymiou, A. G. and Goate, A. M.},
title = {{Late onset Alzheimer's disease genetics implicates microglial pathways in disease risk}},
journal = {Molecular neurodegeneration},
year = {2017},
doi = {10.1186/s13024-017-0184-x},
pmid = {28549481},
url = {https://doi.org/10.1186/s13024-017-0184-x}
}
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