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糖尿病视网膜病变的遗传学见解与新兴疗法:从分子途径到个性化医学

Genetic insights and emerging therapeutics in diabetic retinopathy: from molecular pathways to personalized medicine.

作者信息

Pei Xiaoting, Huang Duliurui, Li Zhijie

机构信息

Henan Eye Institute, Henan Eye Hospital, Henan Provincial People's Hospital, People's Hospital of Henan University, People's Hospital of Zhengzhou University, Zhengzhou, China.

出版信息

Front Genet. 2024 Aug 22;15:1416924. doi: 10.3389/fgene.2024.1416924. eCollection 2024.

DOI:10.3389/fgene.2024.1416924
PMID:39246572
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11378321/
Abstract

Diabetic retinopathy (DR) is a major complication of diabetes worldwide, significantly causing vision loss and blindness in working-age adults, and imposing a substantial socioeconomic burden globally. This review examines the crucial role of genetic factors in the development of DR and highlights the shift toward personalized treatment approaches. Advances in genetic research have identified specific genes and variations involved in angiogenesis, inflammation, and oxidative stress that increase DR susceptibility. Understanding these genetic markers enables early identification of at-risk individuals and the creation of personalized treatment plans. Incorporating these genetic insights, healthcare providers can develop early intervention strategies and tailored treatment plans to improve patient outcomes and minimize side effects. This review emphasizes the transformative potential of integrating genetic information into clinical practice, marking a paradigm shift in DR management and advancing toward a more personalized and effective healthcare model.

摘要

糖尿病视网膜病变(DR)是全球糖尿病的主要并发症,在工作年龄段的成年人中显著导致视力丧失和失明,并在全球范围内造成巨大的社会经济负担。本综述探讨了遗传因素在DR发生发展中的关键作用,并强调了向个性化治疗方法的转变。遗传研究的进展已经确定了参与血管生成、炎症和氧化应激的特定基因和变异,这些增加了DR的易感性。了解这些遗传标记能够早期识别高危个体并制定个性化治疗方案。结合这些遗传见解,医疗保健提供者可以制定早期干预策略和量身定制的治疗方案,以改善患者预后并将副作用降至最低。本综述强调了将遗传信息整合到临床实践中的变革潜力,标志着DR管理的范式转变,并朝着更个性化、更有效的医疗模式迈进。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7b69/11378321/044bc51ea101/fgene-15-1416924-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7b69/11378321/18313727af3b/fgene-15-1416924-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7b69/11378321/63dbc3ea2064/fgene-15-1416924-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7b69/11378321/44422fa6565c/fgene-15-1416924-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7b69/11378321/044bc51ea101/fgene-15-1416924-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7b69/11378321/18313727af3b/fgene-15-1416924-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7b69/11378321/63dbc3ea2064/fgene-15-1416924-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7b69/11378321/44422fa6565c/fgene-15-1416924-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7b69/11378321/044bc51ea101/fgene-15-1416924-g004.jpg

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Identification of key biomarkers for early warning of diabetic retinopathy using BP neural network algorithm and hierarchical clustering analysis.基于 BP 神经网络算法和层次聚类分析的糖尿病视网膜病变早期预警关键生物标志物的鉴定。
Sci Rep. 2024 Jul 2;14(1):15108. doi: 10.1038/s41598-024-65694-x.
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Assessing the possible association between MTHFR (rs1801133) and GPx-1 (rs1050450) polymorphisms with the risk of type 2 diabetes, diabetic neuropathy, and diabetic retinopathy.评估 MTHFR(rs1801133)和 GPx-1(rs1050450)多态性与 2 型糖尿病、糖尿病神经病变和糖尿病视网膜病变风险之间的可能关联。
Mol Biol Rep. 2024 Apr 29;51(1):583. doi: 10.1007/s11033-024-09519-0.
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2型糖尿病患者夜间睡眠时间和日间小睡与糖尿病视网膜病变的关联。
Front Endocrinol (Lausanne). 2025 Jun 24;16:1565508. doi: 10.3389/fendo.2025.1565508. eCollection 2025.
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Potential mechanisms of epigenetic regulation in diabetic retinopathy from the perspectives of multi-omics.从多组学角度看糖尿病视网膜病变中表观遗传调控的潜在机制
Diabetol Metab Syndr. 2025 May 14;17(1):155. doi: 10.1186/s13098-025-01723-7.
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Narrative review of comprehensive management strategies for diabetic retinopathy: interdisciplinary approaches and future perspectives.糖尿病视网膜病变综合管理策略的叙述性综述:跨学科方法与未来展望
BMJ Public Health. 2025 Jan 16;3(1):e001353. doi: 10.1136/bmjph-2024-001353. eCollection 2025 Jan.
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Naunyn Schmiedebergs Arch Pharmacol. 2025 Feb 15. doi: 10.1007/s00210-025-03866-w.
Ethnic disparities in progression rates for sight-threatening diabetic retinopathy in diabetic eye screening: a population-based retrospective cohort study.
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