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. 2012 Dec;119(12):2526-36.
doi: 10.1016/j.ophtha.2012.06.042. Epub 2012 Sep 23.

Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management

Rinki Ratna Priya  1 , Emily Y Chew, Anand Swaroop
Affiliations

Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management

Rinki Ratna Priya et al. Ophthalmology. 2012 Dec.

Abstract

Background: Age-related macular degeneration (AMD) is a common cause of visual impairment in individuals >55 years of age worldwide. The varying clinical phenotypes of AMD result from contributions of genetic, epigenetic, and nongenetic (environmental) factors. Genetic studies of AMD have come of age as a direct result of tremendous gains from the human genome project, genome-wide association studies, and identification of numerous susceptibility loci. These findings have implicated immune response, high-density lipoprotein cholesterol metabolism, extracellular matrix, and angiogenesis signaling pathways in disease pathophysiology.

Main outcome measures: Herein, we address how the wealth of genetic findings in AMD is expected to impact the practice of medicine, providing opportunities for improved risk assessment, molecular diagnosis, preventive, and therapeutic intervention.

Conclusions: We propose that the potential of using genetic variants for monitoring treatment response (pharmacogenetics) may usher in a new era of personalized medicine in the clinical management of AMD.

Financial disclosure(s): Proprietary or commercial disclosures may be found after the references.

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Figures

Figure 1
Figure 1
Genetic architecture of age-related macular degeneration (AMD). Adapted from Manolio et al., 2009
Figure 2
Figure 2
Individual and combined age-related macular degeneration (AMD) risk estimation conferred by CFH, ARMS2, C3, C2/CFB and smoking. The odds ratio (OR) for each gene or in combination is taken from the first published report because of extensive variations in different studies. Inclusion of additional susceptibility alleles would further assist in diagnosis and disease management, as illustrated in Chen et al., 2010.
Figure 3
Figure 3
Different stages of age-related macular degeneration. RPE: retinal pigment epithelium, ECM: extracellular matrix. Adapted from Zarbin et al., 2004 and Kanda et al., 2006.
See this image and copyright information in PMC

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