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

Journal: Experimental Eye Research
Published:
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.

Authors
Rinki Ratnapriya, Felix Grassman, Rui Chen, Alex Hewitt, Jianhai Du, Daniel Saban, Caroline C Klaver, John Ash, Dwight Stambolian, Santa Tumminia, Jiang Qian, Deeba Husain, Sudha Iyengar, Anneke Den Hollander