国际眼科纵览 ›› 2025, Vol. 49 ›› Issue (2): 135-140.doi: 10.3760/cma.j.cn115500-20241013-25210

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高度近视与糖尿病视网膜病变的共同病理生理机制及基因关联性

丁国鑫1  王静1  王鲜2  李英琦2   

  1. 1 贵州医科大学,贵阳 550001;2 贵州医科大学附属医院眼科,贵阳 550004
  • 收稿日期:2024-10-13 出版日期:2025-04-22 发布日期:2025-04-10
  • 通讯作者: 李英琦,Email:drliyingqi@163.com
  • 基金资助:
    中华国际医学交流基金会(Z-2017-26-2302);贵州省科学技术厅项目(黔科合成果-LC[2022]038);贵州省卫生健康委员会科研项目(gzwjkj2017-1-043)

Common pathophysiological mechanism and gene correlation between high myopia and diabetes retinopathy

Ding Guoxin1, Wang Jing1,  Wang Xian2, Li Yingqi2   

  1. 1 Guizhou Medical University, Guiyang 550001, China; 2 Department of Ophthalmology, the Affiliated Hospital of Guizhou Medical University, Guiyang 550004, China
  • Received:2024-10-13 Online:2025-04-22 Published:2025-04-10
  • Contact: Li Yingqi, Email: drliyingqi@163.com
  • Supported by:
    China International Medical Foundation (Z-2017-26-2302); Guizhou Provincial Department of Science and Technology Project (Qian Ke He Cheng Guo-LC [2022]038). Guizhou Provincial Health Commission Research Project (gzwjkj2017-1-043)

摘要: 研究发现高度近视(high myopia,HM)和糖尿病性视网膜病变(diabetic retinopathy,DR)在病理机制上具有潜在的共同特征。全基因组关联分析等技术的应用逐渐揭示了两者在遗传易感性、基因表达调控和信号通路重塑方面的交集。本文综述了HM与DR的共同病理机制,包括氧化应激、炎症反应和细胞外基质重塑,并探讨了二者在基因遗传层面的关联。基因组学研究揭示了VEGF、TGFB2、COL1A1、胰岛素通路相关基因、KCNQ5和CNTN2等基因在HM和DR中的重要作用。这些发现加深了对HM和DR共同遗传结构的理解,并为个性化治疗策略的开发提供了依据。(国际眼科纵览,2025, 49:135-140

关键词: 高度近视, 糖尿病性视网膜病变

Abstract: Recent studies have identified potential shared pathological mechanisms between high myopia (HM) and diabetic retinopathy (DR). The application of technologies such as genome-wide association studies (GWAS) has gradually revealed overlaps in genetic susceptibility, gene expression regulation, and signaling pathway remodeling between the two conditions. This review summarizes the shared pathological mechanisms of HM and DR, including oxidative stress, inflammatory responses, and extracellular matrix remodeling, and explores their genetic associations. Genomic studies have highlighted the critical roles of genes such as VEGF, TGFB2, COL1A1, insulin pathway-related genes, KCNQ5, and CNTN2 in HM and DR. These findings enhance our understanding of the shared genetic architecture of HM and DR and provide a foundation for the development of personalized treatment strategies. (Int Rev Ophthalmol, 2025, 49:  135-140)

Key words: high myopia, diabetic retinopathy