Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network
IntroductionPathological myopia, a severe form of myopia, is characterized by an extreme elongation of the eyeball, leading to various vision-threatening complications. It is broadly classified into two primary types: high myopia, which primarily involves an excessive axial length of the eye with po...
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Frontiers Media S.A.
2025-03-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1533567/full |
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| author | Yuanyuan Luo Yihan Wang Lin Liu Feiming Huang Shiheng Lu Yan Yan |
| author_facet | Yuanyuan Luo Yihan Wang Lin Liu Feiming Huang Shiheng Lu Yan Yan |
| author_sort | Yuanyuan Luo |
| collection | DOAJ |
| description | IntroductionPathological myopia, a severe form of myopia, is characterized by an extreme elongation of the eyeball, leading to various vision-threatening complications. It is broadly classified into two primary types: high myopia, which primarily involves an excessive axial length of the eye with potential for reversible vision loss, and degenerative myopia, associated with progressive and irreversible retinal damage.MethodsLeveraging data from DisGeNET, reporting 184 genes linked to high myopia and 39 genes associated with degenerative myopia, we employed the GenePlexus methodology in conjunction with screening tests to further explore the genetic landscape of pathological myopia.Results and discussionOur 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. |
| format | Article |
| id | doaj-art-573c6304a4d84aeba0465fb5232f8057 |
| institution | DOAJ |
| issn | 1664-8021 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Genetics |
| spelling | doaj-art-573c6304a4d84aeba0465fb5232f80572025-08-20T03:15:30ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-03-011610.3389/fgene.2025.15335671533567Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction networkYuanyuan Luo0Yihan Wang1Lin Liu2Feiming Huang3Shiheng Lu4Yan Yan5Department of Ophthalmology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Ophthalmology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Ophthalmology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaSchool of Life Sciences, Shanghai University, Shanghai, ChinaDepartment of Ophthalmology, Shanghai Eye Diseases Prevention and Treatment Center/Shanghai Eye Hospital, School of Medicine, Tongji University, Shanghai, ChinaDepartment of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, ChinaIntroductionPathological myopia, a severe form of myopia, is characterized by an extreme elongation of the eyeball, leading to various vision-threatening complications. It is broadly classified into two primary types: high myopia, which primarily involves an excessive axial length of the eye with potential for reversible vision loss, and degenerative myopia, associated with progressive and irreversible retinal damage.MethodsLeveraging data from DisGeNET, reporting 184 genes linked to high myopia and 39 genes associated with degenerative myopia, we employed the GenePlexus methodology in conjunction with screening tests to further explore the genetic landscape of pathological myopia.Results and discussionOur 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.https://www.frontiersin.org/articles/10.3389/fgene.2025.1533567/fullpathological myopiahigh myopiadegenerative myopiadisease geneGenePlexusDisGeNET |
| spellingShingle | Yuanyuan Luo Yihan Wang Lin Liu Feiming Huang Shiheng Lu Yan Yan Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network Frontiers in Genetics pathological myopia high myopia degenerative myopia disease gene GenePlexus DisGeNET |
| title | Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network |
| title_full | Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network |
| title_fullStr | Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network |
| title_full_unstemmed | Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network |
| title_short | Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network |
| title_sort | identifying pathological myopia associated genes with geneplexus in protein protein interaction network |
| topic | pathological myopia high myopia degenerative myopia disease gene GenePlexus DisGeNET |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2025.1533567/full |
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