Huang Yida, Rao Suyun, Sun Xufang, Liu Jun
Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Department of Ophthalmology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Mol Biol Rep. 2025 Mar 13;52(1):304. doi: 10.1007/s11033-025-10383-9.
Diabetic retinopathy (DR) remains a prevalent complication of diabetes mellitus and a leading cause of blindness worldwide. The growing global diabetic population underscores the urgency to deepen our understanding of DR pathogenesis and develop effective prevention strategies. This review synthesizes recent advancements in molecular epidemiology, spanning genomics, epigenomics, transcriptomics, proteomics, metabolomics, and gut microbiomics, elucidating genetic underpinnings, epigenetic modifications, transcriptional alterations, protein biomarkers, metabolic disruptions, and gut microbiota dysbiosis associated with DR. Highlighted are key findings from genome-wide association studies (GWAS), Mendelian randomization (MR) studies, candidate gene association studies, and advancements in epigenetic mechanisms, revealing intricate disease pathways and potential therapeutic targets. Additionally, insights into altered metabolic profiles and gut microbiota compositions in DR underscore their emerging roles in disease progression and complications. Challenges and future directions in molecular epidemiological research are discussed to accelerate the translation of these findings into clinical applications for personalized DR management. The integration of multi-omics research findings may provide novel perspectives for facilitating rapid and accurate disease diagnosis, enabling dynamic disease monitoring, and advancing targeted therapeutic strategies.
糖尿病视网膜病变（DR）仍然是糖尿病常见的并发症，也是全球失明的主要原因。全球糖尿病患者人数不断增加，凸显了加深我们对DR发病机制的理解并制定有效预防策略的紧迫性。本综述综合了分子流行病学的最新进展，涵盖基因组学、表观基因组学、转录组学、蛋白质组学、代谢组学和肠道微生物组学，阐明了与DR相关的遗传基础、表观遗传修饰、转录改变、蛋白质生物标志物、代谢紊乱和肠道微生物群失调。重点介绍了全基因组关联研究（GWAS）、孟德尔随机化（MR）研究、候选基因关联研究的关键发现，以及表观遗传机制的进展，揭示了复杂的疾病途径和潜在的治疗靶点。此外，对DR中代谢谱和肠道微生物群组成改变的见解强调了它们在疾病进展和并发症中的新作用。讨论了分子流行病学研究中的挑战和未来方向，以加速将这些发现转化为个性化DR管理的临床应用。多组学研究结果的整合可能为促进快速准确的疾病诊断、实现动态疾病监测和推进靶向治疗策略提供新的视角。
