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A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly
Chouraki V, De Bruijn RF, Chapuis J, Bis JC, Reitz C, Schraen S, Ibrahim-Verbaas CA, Grenier-Boley B et al.. Molecular psychiatry, 2014-02-18
Topic: Amyloid, tau and blood-test diagnosis
Amyloid beta (Aβ) peptides are the major components of senile plaques, one of the main pathological hallmarks of Alzheimer disease (AD). However, Aβ peptides' functions are not fully understood and seem to be highly pleiotropic. We hypothesized that plasma Aβ peptides concentrations could be a suitable endophenotype for a genome-wide association study (GWAS) designed to (i) identify novel genetic factors involved in amyloid precursor protein metabolism and (ii) highlight relevant Aβ-related physiological and pathophysiological processes. Hence, we performed a genome-wide association meta-analysis of four studies totaling 3 528 healthy individuals of European descent and for whom plasma Aβ1-40 and Aβ1-42 peptides levels had been quantified. Although we did not observe any genome-wide significant locus, we identified 18 suggestive loci (P<1 × 10(-)(5)). Enrichment-pathway analyses revealed canonical pathways mainly involved in neuronal functions, for example, axonal guidance signaling. We also assessed the biological impact of the gene most strongly associated with plasma Aβ1-42 levels (cortexin 3, CTXN3) on APP metabolism in vitro and found that the gene protein was able to modulate Aβ1-42 secretion. In conclusion, our study results suggest that plasma Aβ peptides levels are valid endophenotypes in GWASs and can be used to characterize the metabolism and functions of APP and its metabolites.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Chouraki, V., De Bruijn, R. F., Chapuis, J., Bis, J. C., Reitz, C., Schraen, S., et al. (2014). A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly. Molecular psychiatry. https://doi.org/10.1038/mp.2013.185
Vancouver
Chouraki V, De Bruijn RF, Chapuis J, Bis JC, Reitz C, Schraen S, et al. A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly. Molecular psychiatry. 2014. doi:10.1038/mp.2013.185. PMID: 24535457.
BibTeX
@article{chouraki2014-24535457,
author = {Chouraki, V. and De Bruijn, R. F. and Chapuis, J. and Bis, J. C. and Reitz, C. and Schraen, S. and Ibrahim-Verbaas, C. A. and Grenier-Boley, B. and others},
title = {{A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly}},
journal = {Molecular psychiatry},
year = {2014},
doi = {10.1038/mp.2013.185},
pmid = {24535457},
url = {https://doi.org/10.1038/mp.2013.185}
}
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Key findings
- Although we did not observe any genome-wide significant locus, we identified 18 suggestive loci (P<1 × 10(-)(5)).
- Enrichment-pathway analyses revealed canonical pathways mainly involved in neuronal functions, for example, axonal guidance signaling.
- We also assessed the biological impact of the gene most strongly associated with plasma Aβ1-42 levels (cortexin 3, CTXN3) on APP metabolism in vitro and found that the gene protein was able to modulate Aβ1-42 secretion.
- In conclusion, our study results suggest that plasma Aβ peptides levels are valid endophenotypes in GWASs and can be used to characterize the metabolism and functions of APP and its metabolites.
Why it matters
This genome-wide meta-analysis of 3 528 healthy older people of European descent looked for genes tied to blood levels of amyloid-beta peptides. No location reached genome-wide significance, but 18 suggestive loci emerged, and in lab experiments the top gene, cortexin 3 (CTXN3), was able to modulate Aβ1-42 secretion. The authors conclude that blood amyloid levels are a useful trait for genetic studies of how amyloid is made, which is groundwork rather than a treatment lead.
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Study details
- Study designmeta-analysis
- Evidence strengthHigh
How this study scored 58/100
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 56 of the 96 points we could judge it on, which is 58 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 | 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) |
| Randomized / blinded | 0 / 2 | A review of other studies — randomization is not credited here |
| Times cited | 4 / 7 | Cited 41 times (OpenAlex, 2026-10-10) |
| Citations per year | 1 / 5 | 2.9 citations a year over 14 year(s) since 2014 |
| Impact for its field and year | 1 / 6 | Cited 0.6× 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 3 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 | 3 / 3 | University of Washington: institution h-index 3,540 (OpenAlex) |
| Multicenter collaboration | 3 / 3 | OpenAlex lists 14 institution(s) in 4 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 24535457) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 56 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 56 of the 96 points we could judge it on is 58 out of 100. |
| Total | 58 / 100 | — |
What each of these 20 components measures, and what this score is not →
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