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Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network
Yuanyuan Luo1, Yihan Wang1, Lin Liu1
1Department of Ophthalmology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Frontiers in Genetics
|March 20, 2025
Summary
This study identifies new genes linked to pathological myopia, including high myopia and degenerative myopia. These findings offer potential biomarkers for early screening and new therapeutic targets for vision-threatening complications.
Area of Science:
- Ophthalmology
- Genetics
- Medical Research
Background:
- Pathological myopia involves severe eyeball elongation, causing vision-threatening complications.
- It is classified into high myopia (axial length) and degenerative myopia (retinal damage).
Purpose of the Study:
- To explore the genetic landscape of pathological myopia.
- To identify novel genes associated with high myopia and degenerative myopia.
- To uncover potential biomarkers and therapeutic targets.
Main Methods:
- Utilized DisGeNET data for known myopia-related genes.
- Employed GenePlexus methodology and screening tests.
- Analyzed genetic associations for pathological myopia subtypes.
Main Results:
- Discovered 21 new genes for degenerative myopia and 133 for high myopia.
- Identified ADCY4 linked to high myopia and THBS1 to degenerative myopia.
- Highlighted the complex, multifactorial nature of pathological myopia.
Conclusions:
- Uncovered significant new genetic associations for pathological myopia.
- Provided potential biomarkers for early screening of myopia.
- Identified novel genes as potential therapeutic targets for myopia.
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