Language

English

Publication Date

5-1-2025

Journal

Experimental Eye Research

DOI

10.1016/j.exer.2025.110344

PMID

40089136

PMCID

PMC12048874

PubMedCentral® Posted Date

5-1-2026

PubMedCentral® Full Text Version

Author MSS

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.

Keywords

Humans, Macular Degeneration, Genomics, Genome-Wide Association Study, Genetic Predisposition to Disease, Genome-wide association study (GWAS), gene prioritization, quantitative trait loci (QTL), gene regulation, cellular models of AMD, microglia, village-in-a-dish

Published Open-Access

yes

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