Clinical Implications of the Novel Genetic Polymorphism Associated With Retinal Vein Occlusion: The East Asian GWAS Survey in a Single-Center Taiwanese Cohort.
10 affiliations
- 1Department of Ophthalmology, Chang Gung Memorial Hospital, Chiayi, Taiwan.
- 2Department of Medical Education, Taichung Veterans General Hospital, Taichung, Taiwan.
- 3Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan.
- 4Master Program in Precision Health, National Chung Hsing University, Taichung, Taiwan.
- 5Department of Public Health, College of Medicine, Fu Jen Catholic University, New Taipei City, Taiwan.
- 6Institute of Genomics and Bioinformatics, National Chung Hsing University, Taichung, Taiwan.
- 7Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
- 8Department of Ophthalmology, Taichung Veterans General Hospital, Taichung, Taiwan.
- 9School of Medicine, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
- 10Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan.
Abstract
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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BibTeX
@article{wang2026clinical,
title = {{Clinical Implications of the Novel Genetic Polymorphism Associated With Retinal Vein Occlusion: The East Asian GWAS Survey in a Single-Center Taiwanese Cohort.}},
author = {Ching-Yun Wang and Fu-Chun Hsu and I-Chieh Chen and Tzu-Hung Hsiao and Guan-Cheng Lin and I-Jong Wang and Chia-Jen Chang and Chien-Chih Chou},
journal = {Translational vision science \& technology},
year = {2026},
month = oct,
doi = {10.1167/tvst.15.10.11},
url = {https://europepmc.org/article/MED/42852991},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Clinical Implications of the Novel Genetic Polymorphism Associated With Retinal Vein Occlusion: The East Asian GWAS Survey in a Single-Center Taiwanese Cohort.
AU - Ching-Yun Wang
AU - Fu-Chun Hsu
AU - I-Chieh Chen
AU - Tzu-Hung Hsiao
AU - Guan-Cheng Lin
AU - I-Jong Wang
AU - Chia-Jen Chang
AU - Chien-Chih Chou
PY - 2026
DA - 2026/10/01
JO - Translational vision science & technology
DO - 10.1167/tvst.15.10.11
UR - https://europepmc.org/article/MED/42852991
AB - 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.
SN - 2164-2591
ER -