Evidence mapPaperPMID 39856056Full record

ArticleTranslational psychiatry2025

Systematic dissection of pleiotropic loci and critical regulons in excitatory neurons and microglia relevant to neuropsychiatric and ocular diseases.

Yunlong Ma, Dingping Jiang, Jingjing Li, Gongwei Zheng, Yao Deng, Xuanxuan Gou, Shuaishuai Gao, Cheng Chen, Yijun Zhou, Yaru Zhang and 4 more

Abstract read
In one paragraph

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.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Review
  2. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Yunlong Ma *Oujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain Health, Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China. yunlong.ma@pennmedicine.upenn.edu.ORCID http://orcid.org/0000-0002-1299-4802
Dingping Jiang *Oujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain Health, Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Jingjing LiOujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain Health, Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.ORCID http://orcid.org/0000-0002-9882-7377
Gongwei ZhengOujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain Health, Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Yao DengOujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain Health, Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Xuanxuan GouOujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain Health, Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Shuaishuai GaoOujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain Health, Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Cheng ChenOujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain Health, Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Yijun ZhouOujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain Health, Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Yaru ZhangOujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain Health, Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Chunyu DengOujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain Health, Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Yinghao YaoInstitute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Haijun HanSchool of Medicine, Hangzhou City University, Hangzhou, China.
Jianzhong SuOujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain Health, Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China. sujz@wmu.edu.cn.ORCID http://orcid.org/0000-0003-1054-6042

Funding

National Natural Science Foundation of China (National Science Foundation of China) 32200535National Natural Science Foundation of China (National Science Foundation of China) 61871294National Natural Science Foundation of China (National Science Foundation of China) 82172882Natural Science Foundation of Zhejiang Province (Zhejiang Provincial Natural Science Foundation) LR19C060001
6 · The paper itself

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.

Indexed as

Eye DiseasesGenetic PleiotropyMental DisordersMicrogliaNeuronsGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansSingle-Cell Analysis

Identifiers

PMID39856056
PMCPMC11760387

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.