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61/100

✓ Peer-reviewed alzhub usefulness score 61 out of 100. Genetics

Topic: Brain proteins, microglia and lab models

Expression profiles of amacrine cells (interneurons within the retina) were robustly enriched in schizophrenia genetic risk across mammalian species and in different developmental stages. This enrichment was primarily driven by genes involved in synapse biology. Moreover, expression profiles of retinal immune cell populations were enriched in multiple sclerosis genetic risk. No consistent cell-type associations were found for bipolar disorder, major depressive disorder, Parkinson disease, Alzheimer disease, or stroke. On the structural level, higher polygenic risk for schizophrenia was associated with thinning of the ganglion cell inner plexiform layer, which contains dendrites and synaptic connections of amacrine cells (B, -0.09; 95% CI, -0.16 to -0.03; P = .007; n = 36 349; mean [SD] age, 57.50 [8.00] years; 19 859 female [54.63%]). Higher polygenic risk for multiple sclerosis was associated with increased thickness of the retinal nerve fiber layer (B, 0.06; 95% CI, 0.02 to 0.10; P = .007; n = 36 371; mean [SD] age, 57.51 [8.00] years; 19 843 female [54.56%]). Conclusions and Relevance: This study provides novel insights into the cellular underpinnings of retinal alterations in neuropsychiatric and neurological disorders and highlights the retina as a potential proxy to study synaptic pathology in schizophrenia.

Cite this study APA, Vancouver, BibTeX · download .bib or .ris

APA 7th

Boudriot, E., Stephan, M., Rabe, F., Smigielski, L., Schmitt, A., Falkai, P., et al. (2025). Genetic Analysis of Retinal Cell Types in Neuropsychiatric Disorders. JAMA Psychiatry. https://doi.org/10.1001/jamapsychiatry.2024.4230

Vancouver

Boudriot E, Stephan M, Rabe F, Smigielski L, Schmitt A, Falkai P, et al. Genetic Analysis of Retinal Cell Types in Neuropsychiatric Disorders. JAMA Psychiatry. 2025. doi:10.1001/jamapsychiatry.2024.4230. PMID: 39775833.

BibTeX

@article{boudriot2025-39775833,
  author  = {Boudriot, Emanuel and Stephan, Marius and Rabe, Finn and Smigielski, Lukasz and Schmitt, Andrea and Falkai, Peter and Ziller, Michael J. and Rossner, Moritz J. and others},
  title   = {{Genetic Analysis of Retinal Cell Types in Neuropsychiatric Disorders}},
  journal = {JAMA Psychiatry},
  year    = {2025},
  doi     = {10.1001/jamapsychiatry.2024.4230},
  pmid    = {39775833},
  url     = {https://doi.org/10.1001/jamapsychiatry.2024.4230}
}

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Key findings

Expression profiles of amacrine cells (interneurons within the retina) were robustly enriched in schizophrenia genetic risk across mammalian species and in different developmental stages.
This enrichment was primarily driven by genes involved in synapse biology.
Moreover, expression profiles of retinal immune cell populations were enriched in multiple sclerosis genetic risk.
No consistent cell-type associations were found for bipolar disorder, major depressive disorder, Parkinson disease, Alzheimer disease, or stroke.
On the structural level, higher polygenic risk for schizophrenia was associated with thinning of the ganglion cell inner plexiform layer, which contains dendrites and synaptic connections of amacrine cells (B, -0.09; 95% CI, -0.16 to -0.03; P = .007; n = 36 349; mean [SD] age, 57.50 [8.00] years; 19 859 female [54.63%]).

Why it matters

This study found no consistent associations between retinal cell types and Alzheimer disease genetic risk. It does not provide evidence for using retinal cell profiles to study or predict Alzheimer disease.

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Study details

Study designcohort study
Participants36
Effect size54.63%; 54.56%
Evidence strengthModerate

How this study scored 61/100

Published in a leading specialty journal, and it is a cohort study following people over time. Scored zero for randomized / blinded because the record does not state it.

Component	Points	Why
Journal tier	9 / 10	Tier 2 — leading specialty journal (JAMA Psychiatry)
Journal's citation record	3 / 4	JAMA Psychiatry: journal h-index 256 (OpenAlex, 2026-10-29)
Study design	7 / 12	A cohort study following people over time
Strength of evidence	3 / 5	Rated “moderate” in our summary
Peer-review validation	10 / 10	Peer-reviewed. Published as an article in a named peer-reviewed journal.
How recent	4 / 5	2025 — within 3 year(s) of the newest study here
Sample size	1 / 4	36 participants
Effect reported	2 / 3	Effect reported as a number, without an interval or test
Studied in people	3 / 3	Studied in people (participant count stated)
Randomized / blinded	0 / 2	No randomization or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	3 / 7	Cited 18 times (OpenAlex, 2026-10-10)
Citations per year	2 / 5	6.0 citations a year over 3 year(s) since 2025
Impact for its field and year	4 / 6	Cited 9.9× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	0 / 6	No other study in this library cites it
Still being cited	2 / 4	Cited 18 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	1 / 4	Last-listed author Florian J. Raabe: h-index 18 (OpenAlex, whole career)
Institution's track record	1 / 3	ETH Zurich: institution h-index 1,286 (OpenAlex)
Multicenter collaboration	2 / 3	OpenAlex lists 9 institution(s) in 3 countries
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 39775833)
Free to read	2 / 2	Free to read
Total	61 / 100	—

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