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De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease
Rovelet-Lecrux A, Charbonnier C, Wallon D, Nicolas G, Seaman MN, Pottier C, Breusegem SY, Mathur PP et al.. Molecular psychiatry, 2015-07-21
Topic: Amyloid, tau and blood-test diagnosis
We hypothesized that de novo variants (DNV) might participate in the genetic determinism of sporadic early-onset Alzheimer disease (EOAD, onset before 65 years). We investigated 14 sporadic EOAD trios first by array-comparative genomic hybridization. Two patients carried a de novo copy number variation (CNV).
Key findings
- We investigated 14 sporadic EOAD trios first by array-comparative genomic hybridization.
- Two patients carried a de novo copy number variation (CNV).
- We then performed whole-exome sequencing in the 12 remaining trios and identified 12 non-synonymous DNVs in six patients.
- The two de novo CNVs (an amyloid precursor protein (APP) duplication and a BACE2 intronic deletion) and 3/12 non-synonymous DNVs (in PSEN1, VPS35 and MARK4) targeted genes from a biological network centered on the Amyloid beta (Aβ) peptide.
Why it matters
In 14 sporadic early-onset Alzheimer's disease trios, the researchers found de novo copy number variations and non-synonymous de novo variants, several of which targeted genes in a biological network centered on amyloid beta. This is a small genetic study, so it suggests possible genetic contributors but does not establish a treatment, cure or prevention.
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Study details
- Evidence strengthLow
How this study scored 47/100
Published in a leading specialty 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 senior author's track 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 | 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 | 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 | 2015 — 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 108 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 8.3 citations a year over 13 year(s) since 2015 |
| Impact for its field and year | 3 / 6 | Cited 6.3× 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 | 2 / 4 | Cited 24 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 | 2 / 3 | OpenAlex lists 9 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 26194182) |
| 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 | — |
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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. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
APA 7th
Rovelet-Lecrux, A., Charbonnier, C., Wallon, D., Nicolas, G., Seaman, M. N., Pottier, C., et al. (2015). De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease. Molecular psychiatry. https://doi.org/10.1038/mp.2015.100
Vancouver
Rovelet-Lecrux A, Charbonnier C, Wallon D, Nicolas G, Seaman MN, Pottier C, et al. De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease. Molecular psychiatry. 2015. doi:10.1038/mp.2015.100. PMID: 26194182.
BibTeX
@article{roveletlecrux2015-26194182,
author = {Rovelet-Lecrux, A. and Charbonnier, C. and Wallon, D. and Nicolas, G. and Seaman, M. N. and Pottier, C. and Breusegem, S. Y. and Mathur, P. P. and others},
title = {{De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease}},
journal = {Molecular psychiatry},
year = {2015},
doi = {10.1038/mp.2015.100},
pmid = {26194182},
url = {https://doi.org/10.1038/mp.2015.100}
}
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