Topic: Amyloid, tau and blood-test diagnosis
Linkage studies, candidate gene and whole-genome association studies have resulted in a tremendous amount of putative risk genes for Alzheimer's disease (AD). Yet, besides the three causal genes-amyloid precursor protein and presenilin 1 and 2 genes-and one risk gene apolipoprotein E (APOE), no single functional risk variant was identified. Discussing the possible involvement of rare alleles and other types of genetic variants, this review summarizes the current knowledge on the genetic spectrum of AD and integrates different approaches and recent discoveries by genome-wide association studies.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Bettens, K., Sleegers, K., & Van Broeckhoven, C. (2010). Current status on Alzheimer disease molecular genetics: from past, to present, to future. Human molecular genetics. https://doi.org/10.1093/hmg/ddq142
Vancouver
Bettens K, Sleegers K, Van Broeckhoven C. Current status on Alzheimer disease molecular genetics: from past, to present, to future. Human molecular genetics. 2010. doi:10.1093/hmg/ddq142. PMID: 20388643.
BibTeX
@article{bettens2010-20388643,
author = {Bettens, K. and Sleegers, K. and Van Broeckhoven, C.},
title = {{Current status on Alzheimer disease molecular genetics: from past, to present, to future}},
journal = {Human molecular genetics},
year = {2010},
doi = {10.1093/hmg/ddq142},
pmid = {20388643},
url = {https://doi.org/10.1093/hmg/ddq142}
}
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
- Linkage studies, candidate gene and whole-genome association studies have resulted in a tremendous amount of putative risk genes for Alzheimer's disease (AD).
- Yet, besides the three causal genes-amyloid precursor protein and presenilin 1 and 2 genes-and one risk gene apolipoprotein E (APOE), no single functional risk variant was identified.
- Discussing the possible involvement of rare alleles and other types of genetic variants, this review summarizes the current knowledge on the genetic spectrum of AD and integrates different approaches and recent discoveries by genome-wide association studies.
Why it matters
This review summarizes the genetics of Alzheimer's disease and states that, apart from the three causal genes (amyloid precursor protein and presenilin 1 and 2) and the risk gene APOE, no single functional risk variant had been identified. It describes the state of genetic knowledge and does not report a treatment, cure, or prevention.
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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 (Human molecular genetics) |
| Journal's citation record | 3 / 4 | Human Molecular Genetics: journal h-index 356 (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 | 2010 — 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 170 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 9.4 citations a year over 18 year(s) since 2010 |
| Impact for its field and year | 4 / 6 | Cited 14.3× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 1 / 6 | Cited by 1 other studies in this library |
| Still being cited | 1 / 4 | Cited 8 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Christine Van Broeckhoven: h-index 140 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of Antwerp: institution h-index 834 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 20388643) |
| 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: 10.1093/hmg/ddq142
- PubMed: 20388643
- Original source →
- Free full text: Human Molecular Genetics →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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