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The complex genetic architecture of Alzheimer's disease: novel insights and future directions
Andrews SJ, Renton AE, Fulton-Howard B, Podlesny-Drabiniok A, Marcora E, Goate AM.. EBioMedicine, 2023-03-10
Topic: Amyloid, tau and blood-test diagnosis
Plain-language summary
Background Alzheimer's disease (AD) is a complex multifactorial neurodegenerative disorder and the most common form of dementia. AD is highly heritable, with heritability estimates of ∼70% from twin studies. Progressively larger genome-wide association studies (GWAS) have continued to expand our knowledge of AD/dementia genetic architecture.
What this study adds
Evidence grade: Low
This is a narrative review. This review reports that Alzheimer's disease is highly heritable, with heritability estimated at about 70% from twin studies, and that larger genetic studies have greatly increased the number of known disease susceptibility loci. It does not describe a treatment or cure; it indicates that genetic research is expanding knowledge of who may be at risk and why.
Taken from this record’s own fields, not from reading the paper. The grade is assigned from the abstract’s wording; what that means.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Andrews, S. J., Renton, A. E., Fulton-Howard, B., Podlesny-Drabiniok, A., Marcora, E., & Goate, A. M. (2023). The complex genetic architecture of Alzheimer's disease: novel insights and future directions. EBioMedicine. https://doi.org/10.1016/j.ebiom.2023.104511
Vancouver
Andrews SJ, Renton AE, Fulton-Howard B, Podlesny-Drabiniok A, Marcora E, Goate AM. The complex genetic architecture of Alzheimer's disease: novel insights and future directions. EBioMedicine. 2023. doi:10.1016/j.ebiom.2023.104511. PMID: 36907103.
BibTeX
@article{andrews2023-36907103,
author = {Andrews, S. J. and Renton, A. E. and Fulton-Howard, B. and Podlesny-Drabiniok, A. and Marcora, E. and Goate, A. M.},
title = {{The complex genetic architecture of Alzheimer's disease: novel insights and future directions}},
journal = {EBioMedicine},
year = {2023},
doi = {10.1016/j.ebiom.2023.104511},
pmid = {36907103},
url = {https://doi.org/10.1016/j.ebiom.2023.104511}
}
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
- AD is highly heritable, with heritability estimates of ∼70% from twin studies.
- Progressively larger genome-wide association studies (GWAS) have continued to expand our knowledge of AD/dementia genetic architecture.
- Until recently these efforts had identified 39 disease susceptibility loci in European ancestry populations.
- Recent developments Two new AD/dementia GWAS have dramatically expanded the sample sizes and the number of disease susceptibility loci.
Why it matters
This review reports that Alzheimer's disease is highly heritable, with heritability estimated at about 70% from twin studies, and that larger genetic studies have greatly increased the number of known disease susceptibility loci. It does not describe a treatment or cure; it indicates that genetic research is expanding knowledge of who may be at risk and why.
Study details
- Evidence strengthLow
How this study scored 58/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (EBioMedicine) |
| Journal's citation record | 2 / 4 | EBioMedicine: journal h-index 181 (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 | 3 / 5 | 2023 — within 6 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) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 6 / 7 | Cited 377 times (OpenAlex, 2026-10-10) |
| Citations per year | 5 / 5 | 75.4 citations a year over 5 year(s) since 2023 |
| Impact for its field and year | 6 / 6 | Cited 55.3× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 28 other studies in this library |
| Still being cited | 4 / 4 | Cited 352 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 | 2 / 3 | University of California, San Francisco: institution h-index 1,915 (OpenAlex) |
| Multicenter collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 36907103) |
| Free to read | 2 / 2 | Free to read |
| Total | 58 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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