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The genetics of Alzheimer's disease
Bagyinszky E, Youn YC, An SS, Kim S.. Clinical interventions in aging, 2014-04-01
Topic: Amyloid, tau and blood-test diagnosis
Alzheimer's disease (AD) is a complex and heterogeneous neurodegenerative disorder, classified as either early onset (under 65 years of age), or late onset (over 65 years of age). Three main genes are involved in early onset AD: amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2). The apolipoprotein E (APOE) E4 allele has been found to be a main risk factor for late-onset Alzheimer's disease.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Bagyinszky, E., Youn, Y. C., An, S. S., & Kim, S. (2014). The genetics of Alzheimer's disease. Clinical interventions in aging. https://doi.org/10.2147/cia.s51571
Vancouver
Bagyinszky E, Youn YC, An SS, Kim S. The genetics of Alzheimer's disease. Clinical interventions in aging. 2014. doi:10.2147/cia.s51571. PMID: 24729694.
BibTeX
@article{bagyinszky2014-24729694,
author = {Bagyinszky, E. and Youn, Y. C. and An, S. S. and Kim, S.},
title = {{The genetics of Alzheimer's disease}},
journal = {Clinical interventions in aging},
year = {2014},
doi = {10.2147/cia.s51571},
pmid = {24729694},
url = {https://doi.org/10.2147/cia.s51571}
}
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
- Three main genes are involved in early onset AD: amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2).
- The apolipoprotein E (APOE) E4 allele has been found to be a main risk factor for late-onset Alzheimer's disease.
- Additionally, genome-wide association studies (GWASs) have identified several genes that might be potential risk factors for AD, including clusterin (CLU), complement receptor 1 (CR1), phosphatidylinositol binding clathrin assembly protein (PICALM), and sortilin-related receptor (SORL1).
- Recent studies have discovered additional novel genes that might be involved in late-onset AD, such as triggering receptor expressed on myeloid cells 2 (TREM2) and cluster of differentiation 33 (CD33).
Why it matters
This review describes genes involved in early-onset Alzheimer's (APP, PSEN1, PSEN2) and risk factors for late-onset disease including APOE E4 and genes from genome-wide association studies. It summarizes genetic knowledge and does not report a treatment or cure.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Evidence strengthLow
How this study scored 46/100
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 | 2014 — 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 | 5 / 7 | Cited 175 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 12.5 citations a year over 14 year(s) since 2014 |
| Impact for its field and year | 4 / 6 | Cited 10.7× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 6 other studies in this library |
| Still being cited | 2 / 4 | Cited 37 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author SangYun Kim: h-index 53 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Seoul National University: institution h-index 1,053 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 4 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 24729694) |
| Free to read | 2 / 2 | Free to read |
| Total | 46 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.2147/cia.s51571
- PubMed: 24729694
- 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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