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Genetics of Alzheimer's disease
Chouraki V, Seshadri S.. Advances in genetics, 2014-01-01
Topic: Amyloid, tau and blood-test diagnosis
Alzheimer's disease (AD) represents the main form of dementia, and is a major public health problem. Despite intensive research efforts, current treatments have only marginal symptomatic benefits and there are no effective disease-modifying or preventive interventions. AD has a strong genetic component, so much research in AD has focused on identifying genetic causes and risk factors.
Key findings
- Despite intensive research efforts, current treatments have only marginal symptomatic benefits and there are no effective disease-modifying or preventive interventions.
- AD has a strong genetic component, so much research in AD has focused on identifying genetic causes and risk factors.
- This chapter will cover genetic discoveries in AD and their consequences in terms of improved knowledge regarding the disease and the identification of biomarkers and drug targets.
- First, we will discuss the study of the rare early-onset, autosomal dominant forms of AD that led to the discovery of mutations in three major genes, APP, PSEN1, and PSEN2.
Why it matters
This review states that current Alzheimer's treatments give only marginal symptom relief and there are no effective disease-modifying or preventive interventions. It describes how genetic research is being used to find biomarkers and drug targets, not a treatment.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Evidence strengthLow
How this study scored 47/100
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. We have no data on journal's citation record, so that was left out: it earned 45 of the 96 points we could judge it on, which is 47 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Advances in genetics) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 208 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 14.9 citations a year over 14 year(s) since 2014 |
| Impact for its field and year | 6 / 6 | Cited 80.0× 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 17 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Sudha S. Seshadri: h-index 148 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Boston University: institution h-index 1,456 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 25311924) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 45 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 45 of the 96 points we could judge it on is 47 out of 100. |
| Total | 47 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
May need a subscription OpenAlex found no free copy of the full text (checked 6 Feb 1020), so the publisher may charge for it. The PubMed abstract is free.
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
Chouraki, V., & Seshadri, S. (2014). Genetics of Alzheimer's disease. Advances in genetics. https://doi.org/10.1016/b978-0-12-800149-3.00005-6
Vancouver
Chouraki V, Seshadri S. Genetics of Alzheimer's disease. Advances in genetics. 2014. doi:10.1016/b978-0-12-800149-3.00005-6. PMID: 25311924.
BibTeX
@article{chouraki2014-25311924,
author = {Chouraki, V. and Seshadri, S.},
title = {{Genetics of Alzheimer's disease}},
journal = {Advances in genetics},
year = {2014},
doi = {10.1016/b978-0-12-800149-3.00005-6},
pmid = {25311924},
url = {https://doi.org/10.1016/b978-0-12-800149-3.00005-6}
}
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