Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology
Chapuis J, Hansmannel F, Gistelinck M, Mounier A, Van Cauwenberghe C, Kolen KV, Geller F, Sottejeau Y et al.. Molecular psychiatry, 2013-02-12
Topic: Brain proteins, microglia and lab models
Genome-wide association studies (GWAS) have identified a region upstream the BIN1 gene as the most important genetic susceptibility locus in Alzheimer's disease (AD) after APOE. We report that BIN1 transcript levels were increased in AD brains and identified a novel 3 bp insertion allele ∼28 kb upstream of BIN1, which increased (i) transcriptional activity in vitro, (ii) BIN1 expression levels in human brain and (iii) AD risk in three independent case-control cohorts (Meta-analysed Odds ratio of 1.20 (1.14-1.26) (P=3.8 × 10(-11))). Interestingly, decreased expression of the Drosophila BIN1 ortholog Amph suppressed Tau-mediated neurotoxicity in three different assays. Accordingly, Tau and BIN1 colocalized and interacted in human neuroblastoma cells and in mouse brain. Finally, the 3 bp insertion was associated with Tau but not Amyloid loads in AD brains. We propose that BIN1 mediates AD risk by modulating Tau pathology.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Chapuis, J., Hansmannel, F., Gistelinck, M., Mounier, A., Van Cauwenberghe, C., Kolen, K. V., et al. (2013). Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology. Molecular psychiatry. https://doi.org/10.1038/mp.2013.1
Vancouver
Chapuis J, Hansmannel F, Gistelinck M, Mounier A, Van Cauwenberghe C, Kolen KV, et al. Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology. Molecular psychiatry. 2013. doi:10.1038/mp.2013.1. PMID: 23399914.
BibTeX
@article{chapuis2013-23399914,
author = {Chapuis, J. and Hansmannel, F. and Gistelinck, M. and Mounier, A. and Van Cauwenberghe, C. and Kolen, K. V. and Geller, F. and Sottejeau, Y. and others},
title = {{Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology}},
journal = {Molecular psychiatry},
year = {2013},
doi = {10.1038/mp.2013.1},
pmid = {23399914},
url = {https://doi.org/10.1038/mp.2013.1}
}
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Key findings
- Finally, the 3 bp insertion was associated with Tau but not Amyloid loads in AD brains.
Why it matters
This study found that a genetic variant upstream of the BIN1 gene increased BIN1 expression and Alzheimer's disease risk, and that the variant was linked to tau but not amyloid loads in brains. The authors propose BIN1 affects risk by influencing tau pathology.
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Study details
- Study designmeta-analysis
- Evidence strengthHigh
Limitations
The human part of the study is a genetic association (correlation, not proof of causation in people), and the evidence that lowering BIN1 protects against tau damage comes only from fruit fly experiments, not human tissue or patients.
How this study scored 72/100
Published in a leading specialty journal, and it is a meta-analysis pooling many studies. Scored zero for sample size, effect reported and studied in people because the record does not state it. We have no data on senior author's track record, so that was left out: it earned 69 of the 96 points we could judge it on, which is 72 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Molecular psychiatry) |
| Journal's citation record | 3 / 4 | Molecular Psychiatry: journal h-index 318 (OpenAlex, 2026-10-29) |
| Study design | 12 / 12 | A meta-analysis pooling many studies |
| Strength of evidence | 5 / 5 | Rated “high” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2013 — 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 | A review of other studies — randomisation is not credited here |
| Times cited | 6 / 7 | Cited 407 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 27.1 citations a year over 15 year(s) since 2013 |
| Impact for its field and year | 4 / 6 | Cited 16.6× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 25 other studies in this library |
| Still being cited | 3 / 4 | Cited 80 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | 2 / 3 | Inserm: institution h-index 1,988 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 25 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 23399914) |
| Free to read | 2 / 2 | Free to read |
| Points | 69 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 69 of the 96 points we could judge it on is 72 out of 100. |
| Total | 72 / 100 | — |
What each of these 20 components measures, and what this score is not →
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