This page is alzhub.org's plain-English summary of a published study, not the paper itself. It is generated from the record we hold for this study, sourced and linked below — check the original for the full text and methods.

54/100

✓ Peer-reviewed alzhub usefulness score 54 out of 100. Genetics

Topic: Genetics and APOE

Cerebrovascular dysregulation is a hallmark of Alzheimer's disease (AD), but the changes that occur in specific cell types have not been fully characterized. Here, we profile single-nucleus transcriptomes in the human cerebrovasculature in six brain regions from 220 individuals with AD and 208 age-matched controls. We annotate 22,514 cerebrovascular cells, including 11 subtypes of endothelial, pericyte, smooth muscle, perivascular fibroblast and ependymal cells. We identify 2,676 differentially expressed genes in AD, including downregulation of PDGFRB in pericytes, and of ABCB1 and ATP10A in endothelial cells, and validate the downregulation of SLC6A1 and upregulation of APOD, INSR and COL4A1 in postmortem AD brain tissues. We detect vasculature, glial and neuronal coexpressed gene modules, suggesting coordinated neurovascular unit dysregulation in AD. Integration with AD genetics reveals 125 AD differentially expressed genes directly linked to AD-associated genetic variants. Lastly, we show that APOE4 genotype-associated differences are significantly enriched among AD-associated genes in capillary and venule endothelial cells, as well as subsets of pericytes and fibroblasts.

Key findings

Lastly, we show that APOE4 genotype-associated differences are significantly enriched among AD-associated genes in capillary and venule endothelial cells, as well as subsets of pericytes and fibroblasts.

New to this subject? Start with our plain-English guide: Genetics →

Study details

Participants220
Evidence strengthLow

How this study scored 54/100

Published in a leading specialty journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record, multi-centre collaboration and free to read, so those were left out: it earned 30 of the 56 points we could judge it on, which is 54 out of 100.

Component	Points	Why
Journal tier	9 / 10	Tier 2 — leading specialty journal (Nature neuroscience)
Journal's citation record	— / 4	No journal record from OpenAlex — left out of this score
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	3 / 5	2023 — within 6 year(s) of the newest study here
Sample size	2 / 4	220 participants
Effect reported	0 / 3	No effect size reported — scores zero (not stated in the record — scored 0)
Studied in people	3 / 3	Studied in people (participant count stated)
Randomised / blinded	0 / 2	No randomisation or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	— / 7	No citation count (not found in OpenAlex) — left out of this score
Citations per year	— / 5	No citation count or no year — left out of this score
Impact for its field and year	— / 6	No field-weighted citation impact (OpenAlex has none yet) — left out of this score
Cited by studies here	— / 6	Not yet checked against this library's citation graph — left out of this score
Still being cited	— / 4	No yearly citation counts — left out of this score
Senior author's track record	— / 4	Senior author's record not available — left out of this score
Institution's track record	— / 3	No institution listed in OpenAlex — left out of this score
Multi-centre collaboration	— / 3	Institutions not listed — left out of this score
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 37264161)
Free to read	— / 2	Access not recorded — left out of this score
Points	30 / 56	Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 30 of the 56 points we could judge it on is 54 out of 100.
Total	54 / 100	—

What each of these 20 components measures, and what this score is not →

Read the original

Free copy unknown: no free-copy check has an answer for this record yet. That does not mean it is paywalled.

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

Sun, N., Akay, L. A., Murdock, M. H., Park, Y., Galiana-Melendez, F., Bubnys, A., et al. (2023). Single-nucleus multiregion transcriptomic analysis of brain vasculature in Alzheimer's disease. Nature neuroscience. https://doi.org/10.1038/s41593-023-01334-3

Vancouver

Sun N, Akay LA, Murdock MH, Park Y, Galiana-Melendez F, Bubnys A, et al. Single-nucleus multiregion transcriptomic analysis of brain vasculature in Alzheimer's disease. Nature neuroscience. 2023. doi:10.1038/s41593-023-01334-3. PMID: 37264161.

BibTeX

@article{sun2023-37264161,
  author  = {Sun, Na and Akay, Leyla Anne and Murdock, Mitchell H and Park, Yongjin and Galiana-Melendez, Fabiola and Bubnys, Adele and Galani, Kyriaki and Mathys, Hansruedi and others},
  title   = {{Single-nucleus multiregion transcriptomic analysis of brain vasculature in Alzheimer's disease}},
  journal = {Nature neuroscience},
  year    = {2023},
  doi     = {10.1038/s41593-023-01334-3},
  pmid    = {37264161},
  url     = {https://doi.org/10.1038/s41593-023-01334-3}
}

Related studies in Genetics

Also tagged “amyloid-angiopathy”

229 studies in the library carry the topic tag “amyloid-angiopathy”; these are this study's neighbours in a fixed, alphabetical-by-hash tour of them, not the closest in content. All 229 tagged studies.

Similar studies

More on Genetics

See all studies in Genetics →