ArticleTranslational psychiatry2025
Systematic dissection of pleiotropic loci and critical regulons in excitatory neurons and microglia relevant to neuropsychiatric and ocular diseases.
Article in Translational psychiatry, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Ophthalmic and psychiatric health: the overlooked connection between ocular diseases and mental disorders.Eye (London, England) · 2026Review
- Integrating polygenic signals and single-cell multiomics identifies cell-type-specific regulomes critical for immune- and aging-related diseases.Nature aging · 2026Article
- Cognition-Eye-Brain Connection in Alzheimer's Disease Spectrum Revealed by Multimodal Imaging.Journal of magnetic resonance imaging : JMRI · 2025Article
- Integrating microbial GWAS and single-cell transcriptomics reveals associations between host cell populations and the gut microbiome.Nature microbiology · 2025Article
- Retinal biomarkers in schizophrenia spectrum disorders: evidence and implications for the neurodevelopmental and neurodegenerative models.Frontiers in medicine · 2025Review
Corrections and comments
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Authors and funding
14 authors.
Funding
Abstract
Advancements in single-cell multimodal techniques have greatly enhanced our understanding of disease-relevant loci identified through genome-wide association studies (GWASs). To investigate the biological connections between the eye and brain, we integrated bulk and single-cell multiomic profiles with GWAS summary statistics for eight neuropsychiatric and five ocular diseases. Our analysis uncovered five latent factors explaining 61.7% of the genetic variance across these 13 diseases, revealing diverse correlational patterns among them. We identified 45 pleiotropic loci with 91 candidate genes that contribute to disease risk. By integrating GWAS and single-cell profiles, we implicated excitatory neurons and microglia as key contributors in the eye-brain connections. Polygenic enrichment analysis further identified 15 pleiotropic regulons in excitatory neurons and 16 in microglia that were linked to comorbid conditions. Functionally, excitatory neuron-specific regulons were involved in axon guidance and synaptic activity, while microglia-specific regulons were associated with immune response and cell activation. In sum, these findings underscore the genetic link between psychiatric disorders and ocular diseases.
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Registered trials
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