年龄相关性黄斑变性中的功能基因组学：从基因关联到疾病机制的理解
Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms.
作者信息
Ratnapriya Rinki, Grassman Felix, Chen Rui, Hewitt Alex, Du Jianhai, Saban Daniel R, Klaver Caroline C W, Ash John, Stambolian Dwight, Tumminia Santa J, Qian Jiang, Husain Deeba, Iyengar Sudha K, den Hollander Anneke I
机构信息
Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA.
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Institute for Clinical Research and Systems Medicine, Health and Medical University, Potsdam, Germany.
出版信息
Exp Eye Res. 2025 May;254:110344. doi: 10.1016/j.exer.2025.110344. Epub 2025 Mar 13.
Genome-wide association studies have been remarkably successful in identifying genetic variants associated with age-related macular degeneration (AMD), demonstrating a strong genetic component largely driven by common variants. However, progress in translating these genetic findings into a deeper understanding of disease mechanisms and new therapies has been slow. Slow progress in this area can be attributed to limited knowledge of the functional impact of AMD-associated non-coding variants on gene function, the molecular mechanisms and cell types underlying disease. This review offers a comprehensive overview of functional genomics approaches to uncover the genetic, epigenetic, cellular and molecular mechanisms underlying AMD and outlines future directions for research.
全基因组关联研究在识别与年龄相关性黄斑变性（AMD）相关的遗传变异方面取得了显著成功，表明存在一个主要由常见变异驱动的强大遗传成分。然而，将这些遗传发现转化为对疾病机制的更深入理解和新疗法的进展一直很缓慢。该领域进展缓慢可归因于对AMD相关非编码变异对基因功能的功能影响、疾病潜在的分子机制和细胞类型的了解有限。本综述全面概述了功能基因组学方法，以揭示AMD潜在的遗传、表观遗传、细胞和分子机制，并概述了未来的研究方向。
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