Through a large international study, researchers have identified additional genetic factors known to influence the risk of age-related macular degeneration (AMD). The study, published in Nature Genetics, was supported by the National Eye Institute. 

Currently, there are no FDA-approved treatments for geographic atrophy or “dry” AMD. Certain genetic, environmental, and lifestyle risk factors affect the risk of developing AMD. Smoking, for example, is known to increase the risk of AMD whereas consuming leafy greens and fish can reduce the risk. 

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The International AMD Genomics Consortium obtained and analyzed genetic data from 43,566 predominantly European people to identify common and rare variants associated with AMD; about 23,000 participants had AMD and about 20,000 did not. DNA samples from both arms were analyzed with a focus on distinct loci already known or suspected to be linked to AMD. Researchers then compared the DNA to a reference dataset called 1000 Genomes project, which contains over 12 million genes of potential interest. Then they looked at all 12 million variants to see if any were found more frequently in participants with AMD than those without it.  

Until this research, scientists had established 21 loci that influence the risk of AMD. Now, they have discovered a total of 52 genetic variants linked to AMD. They are located among 34 loci, of which 16 were not previously linked to AMD. The study further supported the relationship between AMD and two genes that were previously linked to the condition: CFH and TIMP3. In addition, 10 of the discovered variants involve genes that work in maintaining the extracellular matrix. If this connection is confirmed, it may enable the development of a predictive genetic test and more effect therapies for patients with this subtype of AMD. 

Findings from the study may help better understand the biological processes that result in AMD and possibly find new treatment targets for potential drug development. Study authors stated the next step is to study the impact of the variant on the gene and its function. 

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