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Single-cell Profiling of Developing and Mature Retinal Neurons
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Genome-Wide Insights into the Genes and Pathways Shaping Human Foveal Development
Callum Hunt1, Ha-Jun Yoon1, Alvin Lirio1
1The University of Leicester Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Medrxiv : the Preprint Server for Health Sciences
|June 30, 2025
Summary
This study identified 123 genetic loci linked to foveal pit depth in over 61,000 individuals, revealing new genes and pathways involved in eye development.
Area of Science:
- Ophthalmology
- Genetics
- Developmental Biology
Background:
- Foveal pit morphology is crucial for high-acuity vision.
- The genetic underpinnings of foveal development are not fully understood.
Purpose of the Study:
- To conduct the first genome-wide association study (GWAS) of foveal pit depth.
- To identify genetic loci and genes influencing human foveal development.
Main Methods:
- Genome-wide association study (GWAS) in a cohort of 61,269 individuals.
- Utilized 12 variant-to-gene mapping strategies to prioritize causal genes.
- Performed rare-variant analysis to identify additional associations.
Main Results:
- Identified 123 genome-wide significant loci associated with foveal pit depth (47 novel).
- Prioritized 128 putative causal genes, including 64 new genes for foveal development.
- Discovered novel biological influences: retinoic acid metabolism (CYP26A1), extracellular matrix, cytoskeletal dynamics, and cell fate determination.
- Identified ESYT3 via rare-variant analysis as a novel gene linked to foveal structure.
Conclusions:
- This GWAS provides novel insights into the genetic architecture of human foveal development.
- Identified key molecular pathways, including retinoic acid metabolism and extracellular matrix dynamics.
- Establishes a foundation for future functional studies on foveal development and associated diseases.
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