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Updated: Aug 6, 2026
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Multiplexed Analysis of Retinal Gene Expression and Chromatin Accessibility Using scRNA-Seq and scATAC-Seq
Published on: March 12, 2021
Large-scale Whole-Exome Sequencing Defines the Protein-Coding Architecture of Retinal Structure, Visual Function, and
Jianqing Li1,2,3, Yijun Ge4, Jingxiao Du1,2
1Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
|July 24, 2026
Summary
Researchers mapped the genetic basis of retinal traits and diseases using large-scale sequencing data. This study identifies novel genes linked to vision and blinding conditions, offering new targets for research.
Area of Science:
- Genetics
- Ophthalmology
- Neuroscience
Background:
- The genetic underpinnings of retinal structure, visual function, and blinding diseases are not fully understood.
- The retina serves as a key window into the central nervous system, yet its protein-coding architecture is poorly defined.
Purpose of the Study:
- To define the protein-coding architecture of retinal phenotypes.
- To identify genetic links across retinal structure, visual function, and major blinding diseases.
- To discover novel genes associated with retinal traits and diseases.
Main Methods:
- Large-scale whole-exome sequencing data from UK Biobank (N=356,982) and All of Us cohort (N=245,388).
- Exome-wide gene-based tests for rare coding variants and single-variant analyses for common coding variants.
- Experimental validation of novel genes, including FYB2, using induced retinal pigment epithelium (iRPE) cells.
Main Results:
- Identified 22 significant rare-variant gene-based associations (16 genes, 12 novel).
- Identified 243 independent common coding variants (126 genes, 24 novel).
- CFI, C3, and RIOX1 demonstrated pleiotropy across retinal structure, function, and disease. FYB2 knockdown in iRPE cells indicated a role in diabetic retinopathy.
Conclusions:
- Established the protein-coding architecture of retinal phenotypes.
- Highlighted shared genetic links across retinal structure, visual function, and disease.
- Provided candidate genes, including FYB2, for further investigation into blinding retinal disorders.
