Academic Journal
Clinical Implications of the Novel Genetic Polymorphism Associated With Retinal Vein Occlusion: The East Asian GWAS Survey in a Single-Center Taiwanese Cohort.
| Τίτλος: | Clinical Implications of the Novel Genetic Polymorphism Associated With Retinal Vein Occlusion: The East Asian GWAS Survey in a Single-Center Taiwanese Cohort. |
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| Συγγραφείς: | Wang CY; Department of Ophthalmology, Chang Gung Memorial Hospital, Chiayi, Taiwan.; Department of Medical Education, Taichung Veterans General Hospital, Taichung, Taiwan., Hsu FC; Department of Medical Education, Taichung Veterans General Hospital, Taichung, Taiwan., Chen IC; Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan.; Master Program in Precision Health, National Chung Hsing University, Taichung, Taiwan., Hsiao TH; Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan.; Department of Public Health, College of Medicine, Fu Jen Catholic University, New Taipei City, Taiwan.; Institute of Genomics and Bioinformatics, National Chung Hsing University, Taichung, Taiwan., Lin GC; Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan., Wang IJ; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan., Chang CJ; Department of Ophthalmology, Taichung Veterans General Hospital, Taichung, Taiwan., Chou CC; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.; Department of Ophthalmology, Taichung Veterans General Hospital, Taichung, Taiwan.; School of Medicine, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan. |
| Πηγή: | Translational vision science & technology [Transl Vis Sci Technol] 2026 Oct 05; Vol. 15 (10), pp. 11. |
| Τύπος έκδοσης: | Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Association for Research in Vision and Ophthalmology Country of Publication: United States NLM ID: 101595919 Publication Model: Print Cited Medium: Internet ISSN: 2164-2591 (Electronic) Linking ISSN: 21642591 NLM ISO Abbreviation: Transl Vis Sci Technol Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Rockville, Md. : Association for Research in Vision and Ophthalmology |
| Ιατρικοί όροι (MeSH): | Genetic Predisposition to Disease*/ethnology , Polymorphism, Single Nucleotide*/genetics , Retinal Vein Occlusion*/genetics , East Asian People*/ethnology , East Asian People*/genetics, Taiwan/epidemiology ; Taiwan/ethnology ; Aged ; Female ; Humans ; Male ; Middle Aged ; Cohort Studies ; Cross-Sectional Studies ; Genome-Wide Association Study |
| Περίληψη: | Purpose: To explore the single-nucleotide polymorphic features in an East Asian cohort of retinal venous occlusion (RVO) patients, to map pathogenic genes, and to analyze potential pathophysiological associations. Methods: This was a cross-sectional monocentric cohort study involving 172 patients with RVO and 1720 control participants from the Taiwanese population from a single center, Taichung Veterans General Hospital, under the framework of the Taiwan Precision Medicine Initiative (TPMI). DNA samples were collected from a Taiwanese population under the framework of the TPMI. Single nucleotide polymorphism (SNP) exploration was performed using PLINK 2.0. Gene mapping for the selected SNPs and functional analysis were conducted via the SNPXplorer online platform with the R packages biomaRt and clusterProfiler. Single-cell transcriptome mapping was achieved using the published Human Eye Transcriptome Atlas. Results: We report several novel RVO-associated SNPs with suggestive genome-wide association (P < 1 × 10-5), including rs16938701 (STAU2), rs76802456 (FAM189A1), rs995014 (N6AMT1), rs933813, rs6991412 (STAU2), rs79040889, and rs12524176. Among them, the STAU2 single-nucleotide variant, rs16938701, had the most remarkable association (P = 3.19 × 10-7). After mapping to the published human retina single-cell transcriptome atlas, STAU2 exhibited relatively high expression levels in retinal pigment epithelium/choroid complex, microglia, and hyalocyte among all ocular cell types. Conclusions: We identified several novel risk loci significantly associated with the occurrence of RVO and examined potential mechanistic links between specific biological processes and the pathophysiology of RVO. Translational Relevance: These findings provide novel insights into the genetic basis of RVO and highlight key pathways that may inform future research and therapeutic strategies. |
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| Entry Date(s): | Date Created: 20261009 Date Completed: 20261009 Latest Revision: 20261019 |
| Update Code: | 20261019 |
| PubMed Central ID: | PMC13674661 |
| DOI: | 10.1167/tvst.15.10.11 |
| PMID: | 42852991 |
| Βάση Δεδομένων: | MEDLINE |
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