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Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure
Li Z, Del-Aguila JL, Dube U, Budde J, Martinez R, Black K, Xiao Q, Cairns NJ et al.. Genome medicine, 2018-06-08
Topic: Amyloid, tau and blood-test diagnosis
Background Alzheimer's disease (AD) is characterized by neuronal loss and astrocytosis in the cerebral cortex. However, the specific effects that pathological mutations and coding variants associated with AD have on the cellular composition of the brain are often ignored. Methods We developed and optimized a cell-type-specific expression reference panel and employed digital deconvolution methods to determine brain cellular distribution in three independent transcriptomic studies.
Key findings
- However, the specific effects that pathological mutations and coding variants associated with AD have on the cellular composition of the brain are often ignored.
- Methods We developed and optimized a cell-type-specific expression reference panel and employed digital deconvolution methods to determine brain cellular distribution in three independent transcriptomic studies.
- Results We found that neuronal and astrocyte relative proportions differ between healthy and diseased brains and also among AD cases that carry specific genetic risk variants.
- Brain carriers of pathogenic mutations in APP, PSEN1, or PSEN2 presented lower neuron and higher astrocyte relative proportions compared to sporadic AD.
Why it matters
Using cell-type deconvolution across three transcriptomic studies, this work found that neuronal and astrocyte proportions differ between healthy and diseased brains and among Alzheimer's disease-associated genetic variants. These are descriptive cellular findings and do not demonstrate a treatment, cure or prevention.
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Study details
- Evidence strengthLow
How this study scored 43/100
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 (Genome medicine) |
| Journal's citation record | 2 / 4 | Genome Medicine: journal h-index 174 (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 | 2 / 5 | 2018 — within 10 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 | 4 / 7 | Cited 57 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 5.7 citations a year over 10 year(s) since 2018 |
| Impact for its field and year | 3 / 6 | Cited 4.2× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 4 other studies in this library |
| Still being cited | 1 / 4 | Cited 12 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Oscar Harari: h-index 39 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Washington University in St. Louis: institution h-index 1,962 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 29880032) |
| Free to read | 2 / 2 | Free to read |
| Total | 43 / 100 | — |
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Read the original
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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
Li, Z., Del-Aguila, J. L., Dube, U., Budde, J., Martinez, R., Black, K., et al. (2018). Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure. Genome medicine. https://doi.org/10.1186/s13073-018-0551-4
Vancouver
Li Z, Del-Aguila JL, Dube U, Budde J, Martinez R, Black K, et al. Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure. Genome medicine. 2018. doi:10.1186/s13073-018-0551-4. PMID: 29880032.
BibTeX
@article{li2018-29880032,
author = {Li, Z. and Del-Aguila, J. L. and Dube, U. and Budde, J. and Martinez, R. and Black, K. and Xiao, Q. and Cairns, N. J. and others},
title = {{Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure}},
journal = {Genome medicine},
year = {2018},
doi = {10.1186/s13073-018-0551-4},
pmid = {29880032},
url = {https://doi.org/10.1186/s13073-018-0551-4}
}
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