Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms

IF 3 2区医学 Q1 OPHTHALMOLOGY

Experimental eye research Pub Date : 2025-03-13 DOI:10.1016/j.exer.2025.110344

Rinki Ratnapriya , Felix Grassman , Rui Chen , Alex Hewitt , Jianhai Du , Daniel R. Saban , Caroline C.W. Klaver , John Ash , Dwight Stambolian , Santa J. Tumminia , Jiang Qian , Deeba Husain , Sudha K. Iyengar , Anneke I. den Hollander

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引用次数: 0

Abstract

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.

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年龄相关性黄斑变性的功能基因组学：从遗传关联到了解疾病机制

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非常成功，证明了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和新疗法的更深入理解的进展一直很缓慢。这一领域进展缓慢可归因于对amd相关非编码变异对基因功能、分子机制和潜在疾病的细胞类型的功能影响的了解有限。本文综述了功能基因组学方法在揭示AMD的遗传、表观遗传、细胞和分子机制方面的全面概述，并概述了未来的研究方向。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Experimental eye research 医学-眼科学

CiteScore

6.80

自引率

5.90%

发文量

323

审稿时长

66 days

期刊介绍： The primary goal of Experimental Eye Research is to publish original research papers on all aspects of experimental biology of the eye and ocular tissues that seek to define the mechanisms of normal function and/or disease. Studies of ocular tissues that encompass the disciplines of cell biology, developmental biology, genetics, molecular biology, physiology, biochemistry, biophysics, immunology or microbiology are most welcomed. Manuscripts that are purely clinical or in a surgical area of ophthalmology are not appropriate for submission to Experimental Eye Research and if received will be returned without review.