Global Network Uncovers New Macular Degeneration Genes

Researchers Find Seven New Genes Linked to Macular Degeneration

An international team recently discovered seven new genes associated with increased risk of age-related macular degeneration (AMD), a leading cause of adult vision loss.  The AMD Gene Consortium, a global network of 18 research groups that includes Casey Eye Institute's Macular Degeneration Center, also confirmed 12 genes identified in earlier studies.  The findings were reported March 3, 2013 in the online journal Nature Genetics.

"The findings from this international undertaking shed greater light on AMD's biological causes and, ultimately, will further our ability to develop targeted treatments, said Michael Klein, M.D., Director of the Macular Degeneration Center and head of its Genetics of AMD Study.  Scientists at Casey and elsewhere have shown that genetics, along with age, diet and smoking influence risk of advanced AMD.  The disease, which can damage central vision over time, often runs in families and may be caused by any number of genes.  To date, the two gene variants most strongly connected to AMD are complement factor H gene (CFH) and ARMS2.

The AMD Gene Consortium combined data from the 18 research groups to increase the power of earlier analyses.  The 19 regions linked to AMD involve a variety of biological functions, including regulation of the immune system, maintenance of cell structures, growth and permeability of blood vessels, lipid metabolism and atherosclerosis.   Supported by the National Eye Institute (NEI), a part of the National Institutes of Health, this is the largest genome-wide study for AMD to date.

"This effort  is a significant step forward in AMD genetic research," said Dr. Klein.  Currently, the Macular Degeneration Center is collaborating with the Texas Biomedical Institute in an NEI-supported study using advanced gene sequencing technology.  The researchers aim to  uncover less obvious but potentially powerful genes contributing to AMD in large families comprised of multiple individuals with the disease.