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Retrospective Cohort Study
Copyright ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Diabetes. Oct 15, 2025; 16(10): 110138
Published online Oct 15, 2025. doi: 10.4239/wjd.v16.i10.110138
Polygenic risk score for predicting diabetic retinopathy in patients with type 2 diabetes: A twenty-year follow-up study
Yu-Chuen Huang, Wen-Ling Liao, Hui-Ju Lin, Yu-Te Huang, Ya-Wen Chang, Jai-Sing Yang, Angel L Weng, Fuu-Jen Tsai
Yu-Chuen Huang, Hui-Ju Lin, Fuu-Jen Tsai, School of Chinese Medicine, China Medical University, Taichung 404, Taiwan
Yu-Chuen Huang, Ya-Wen Chang, Jai-Sing Yang, Fuu-Jen Tsai, Department of Medical Research, China Medical University Hospital, China Medical University, Taichung 404, Taiwan
Wen-Ling Liao, Center for Personalized Medicine, China Medical University Hospital and Graduate Institute of Integrated Medicine, China Medical University, Taichung 404, Taiwan
Hui-Ju Lin, Yu-Te Huang, Department of Ophthalmology, China Medical University Hospital, Taichung 404, Taiwan
Angel L Weng, American School in Taichung, Taichung 406, Taiwan
Angel L Weng, Department of Molecular, Cellular and Developmental Biology, University of Michigan, Ann Arbor, MI 48109, United States
Fuu-Jen Tsai, Department of Medical Genetics, China Medical University Hospital, Taichung 404, Taiwan
Fuu-Jen Tsai, Division of Pediatric Genetics, Endocrinology and Metabolism, Children’s Hospital of China Medical University, Taichung 404, Taiwan
Co-first authors: Yu-Chuen Huang and Wen-Ling Liao.
Author contributions: Huang YC and Liao WL wrote the manuscript, and made equal contributions as co-first authors; Lin HJ, Huang YT, Chang YW, Yang JS, and Weng AL performed the research; Tsai FJ edited the manuscript. All authors have read and agreed to the published version of the manuscript.
Supported by China Medical University Hospital, No. DMR-113-105.
Institutional review board statement: The study was reviewed and approved by the Ethics Committee of China Medical University Hospital, No. CMUH111-REC1-176.
Informed consent statement: Written informed consent was obtained from all participants.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
STROBE statement: The authors have read the STROBE Statement-checklist of items, and the manuscript was prepared and revised according to the STROBE Statement-checklist of items.
Data sharing statement: No additional data are available.
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Fuu-Jen Tsai, MD, PhD, Department of Medical Research, China Medical University Hospital, China Medical University, No. 2 Yuh-Der Road, Taichung 404, Taiwan. 000704@tool.caaumed.org.tw
Received: May 30, 2025
Revised: June 26, 2025
Accepted: September 18, 2025
Published online: October 15, 2025
Processing time: 139 Days and 0.9 Hours
Core Tip

Core Tip: This population-based study developed a polygenic risk score (PRS) to assess diabetic retinopathy (DR) risk in patients with type 2 diabetes. Findings show that individuals with higher PRS are more likely to develop DR, including severe forms, over a 20-year period. Our study highlights the genetic basis of DR and introduces a potential tool for risk stratification and personalized screening in patients with type 2 diabetes. The PRS may help identify high-risk patients who could benefit from more frequent ophthalmological assessments and earlier intervention.