Seven New Genetic Regions Linked to AMD

March 06, 2013
An international collaboration of more than 150 researchers from 18 institutions has identified seven new genetic regions — also known as loci — linked to the risk for developing age-related macular degeneration (AMD). While this discovery implicates seven specific genes, further research is needed to definitively establish the genes’ connection to the disease.

The study, funded in part by the Foundation Fighting Blindness, is the largest genome-wide study for AMD, and will help scientists find new targets for treatments and diagnostic methods. Results of the study were recently published online in Nature Genetics.

The study investigators are members of the AMD Gene Consortium, which was established in 2010 by the National Eye Institute to find new genes associated with AMD. The main benefit of the Consortium is its ability to perform powerful studies by combining its members’ data. Genetic information from more than 77,000 people was used in the Consortium’s latest investigation.

“I am excited to see the Consortium’s new genetic findings for AMD,” says Dr. Stephen Rose, chief research officer of the Foundation. “This level of collaboration is unprecedented, and is critical to accelerating the advancement of sight-saving research for all retinal diseases.”

Thirteen genes have thus far been definitively linked to AMD risk. Researchers from the Consortium note that many of the genes discovered prior to this study — including CFH and ARMS2 — contribute more to the genetic risk of AMD than the genes associated with the newly identified loci. However, the seven new loci are moving scientists closer to understanding the complete AMD story, including how it develops and progresses.

Based on the identified genes, experts believe that an overactive innate immune system — which controls the body’s ability to fight infection — is strongly associated with AMD risk. Lifestyle habits such as smoking and diet also contribute significantly to AMD risk. Approximately 10 million people in the United States have the condition.