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Genes associated with Alzheimer's disease: an overview and current status
Giri M, Zhang M, Lü Y.. Clinical interventions in aging, 2016-05-17
Topic: Amyloid, tau and blood-test diagnosis
Alzheimer's disease (AD) is a progressive, neurodegenerative disease and the most common form of dementia in elderly people. It is an emerging public health problem that poses a huge societal burden. Linkage analysis was the first milestone in unraveling the mutations in APP, PSEN1, and PSEN2 that cause early-onset AD, followed by the discovery of apolipoprotein E-ε4 allele as the only one genetic risk factor for late-onset AD. Genome-wide association studies have revolutionized genetic research and have identified over 20 genetic loci associated with late-onset AD. Recently, next-generation sequencing technologies have enabled the identification of rare disease variants, including unmasking small mutations with intermediate risk of AD in PLD3, TREM2, UNC5C, AKAP9, and ADAM10. This review provides an overview of the genetic basis of AD and the relationship between these risk genes and the neuropathologic features of AD. An understanding of genetic mechanisms underlying AD pathogenesis and the potentially implicated pathways will lead to the development of novel treatment for this devastating disease.
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APA 7th
Giri, M., Zhang, M., & Lü, Y. (2016). Genes associated with Alzheimer's disease: an overview and current status. Clinical interventions in aging. https://doi.org/10.2147/cia.s105769
Vancouver
Giri M, Zhang M, Lü Y. Genes associated with Alzheimer's disease: an overview and current status. Clinical interventions in aging. 2016. doi:10.2147/cia.s105769. PMID: 27274215.
BibTeX
@article{giri2016-27274215,
author = {Giri, M. and Zhang, M. and Lü, Y.},
title = {{Genes associated with Alzheimer's disease: an overview and current status}},
journal = {Clinical interventions in aging},
year = {2016},
doi = {10.2147/cia.s105769},
pmid = {27274215},
url = {https://doi.org/10.2147/cia.s105769}
}
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Key findings
- Genome-wide association studies have revolutionized genetic research and have identified over 20 genetic loci associated with late-onset AD.
Why it matters
This review describes genetic findings in Alzheimer's disease, including mutations in APP, PSEN1, and PSEN2 that cause early-onset AD, the apolipoprotein E-ε4 allele as a risk factor for late-onset AD, and over 20 genetic loci associated with late-onset AD. It is an overview of genetic research and states that understanding these mechanisms may lead to novel treatment, but no treatment, cure, or prevention is tested.
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Study details
- Evidence strengthLow
How this study scored 45/100
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 (Clinical interventions in aging) |
| Journal's citation record | 1 / 4 | Clinical Interventions in Aging: journal h-index 138 (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 | 1 / 5 | 2016 — within 20 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 313 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 26.1 citations a year over 12 year(s) since 2016 |
| Impact for its field and year | 5 / 6 | Cited 21.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 8 other studies in this library |
| Still being cited | 3 / 4 | Cited 67 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 1 / 4 | Last-listed author Man Zhang: h-index 16 (OpenAlex, whole career) |
| Institution's track record | 0 / 3 | The Affiliated Yongchuan Hospital of Chongqing Medical University: institution h-index 254 (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 27274215) |
| Free to read | 2 / 2 | Free to read |
| Total | 45 / 100 | — |
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Read the original
- DOI: 10.2147/cia.s105769
- PubMed: 27274215
- Original source →
- Free full text: Clinical Interventions in Aging →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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