Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network
Our comprehensive analysis resulted in the discovery of 21 new genes associated with degenerative myopia and 133 genes linked to high myopia with significant confidence. Among these findings, genes such as ADCY4, a regulator of the cAMP pathway, were functionally linked to high myopia, while THBS1, involved in collagen degradation, was closely associated with the pathophysiology of degenerative myopia. These previously unreported genes play crucial roles in the underlying mechanisms of pathological myopia, thereby emphasizing the complexity and multifactorial nature of this condition. The importance of our study resides in the uncovering of new genetic associations with pathological myopia, the provision of potential biomarkers for early screening, and the identification of therapeutic targets.
Authors
- Shiheng Lu (ORCID: https://orcid.org/0000-0002-5323-7787)
- FeiMing Huang
- Lin Liu (ORCID: https://orcid.org/0000-0002-4613-3998)
- Yan Yan (ORCID: https://orcid.org/0000-0002-0455-7450)
- Yihan Wang (ORCID: https://orcid.org/0000-0001-8671-508X)
- Yuanyuan Luo (ORCID: https://orcid.org/0000-0002-3826-3637)
Institutions
- Shanghai University (CN)
- Tongji University (CN)
- Shanghai Jiao Tong University (CN)
- Renji Hospital (CN)
- Shanghai Eye Disease Prevention & Treatment Center (CN)
- Eye & ENT Hospital of Fudan University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-03-05
- DOI
- https://doi.org/10.3389/fgene.2025.1533567
- Citations
- 4
- Primary Topic
- Retinal Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 6.83