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July 26, 2026Advanced ScienceOpen Access

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

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Authors

JLJianqing LiYGYijun GeJDJingxiao Du

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Overview

Randomized trial identifies gene associations in retinal structure and visual function, suggesting genetic links to blinding diseases.

Key Points

  • This research aims to elucidate the protein-coding architecture that connects retinal structure, visual function, and major blinding diseases.
  • Analyzed whole-exome sequencing data from 356,982 UK Biobank participants.
  • Conducted exome-wide gene-based tests for rare coding variants and single-variant analyses for common coding variants.
  • Validated associations in the All of Us cohort with 245,388 participants.
  • Identified 22 significant rare-variant gene-based associations involving 16 genes, including 12 novel genes.
  • Discovered 243 independent common coding variants in 126 genes, including 24 novel genes.
  • Notable associations found in CFI, C3, and RIOX1 across multiple retinal outcomes, with FYB2 prioritized for validation due to its role in diabetic retinopathy.

Cite This Study

Li et al. (2026) studied this question.

synapsesocial.com/papers/6a65a84ed3aea3239cd78c29https://doi.org/10.1002/advs.76582
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