Age-related macular degeneration: genome-wide association studies to translation

• Published in: Genetics in medicine Vol. 18; no. 4; pp. 283 - 289
• Main Authors: Black, James R.M., Clark, Simon J.
• Format: Journal Article
• Language: English
• Published: New York Elsevier Inc 01-04-2016; Nature Publishing Group US; Elsevier Limited; Nature Publishing Group
• Subjects: 631/208/1516; 631/208/205/2138; 692/699/3161/1626; age-related macular degeneration; Biomedicine; complement cascade; Genetic Predisposition to Disease; genome-wide association studies; Genome-Wide Association Study; Human Genetics; Humans; Inheritance Patterns; Laboratory Medicine; Macular Degeneration - diagnosis; Macular Degeneration - genetics; Macular Degeneration - therapy; Mutation; novel therapeutics; Polymorphism, Single Nucleotide; Review; Translational Research, Biomedical; novel therapeutics; age-related macular degeneration; genome-wide association studies; complement cascade
• ISSN: 1098-3600; 1530-0366
• DOI: 10.1038/gim.2015.70

In recent years, genome-wide association studies (GWAS), which are able to analyze the contribution to disease of genetic variations that are common within a population, have attracted considerable investment. Despite identifying genetic variants for many conditions, they have been criticized for yielding data with minimal clinical utility. However, in this regard, age-related macular degeneration (AMD), the most common form of blindness in the Western world, is a striking exception. Through GWAS, common genetic variants at a number of loci have been discovered. Two loci in particular, including genes of the complement cascade on chromosome 1 and the ARMS2/HTRA1 genes on chromosome 10, have been shown to convey significantly increased susceptibility to developing AMD. Today, although it is possible to screen individuals for a genetic predisposition to the disease, effective interventional strategies for those at risk of developing AMD are scarce. Ongoing research in this area is nonetheless promising. After providing brief overviews of AMD and common disease genetics, we outline the main recent advances in the understanding of AMD, particularly those made through GWAS. Finally, the true merit of these findings and their current and potential translational value is examined.
Genet Med18 4, 283–289.