The Genetics Behind Age-related Macular Degeneration Detailed In New Study

March 4, 2013

redOrbit Staff & Wire Reports Your Universe Online

A coalition of 18 different research organizations has identified seven new genetic regions associated with an eye disorder that is a common cause of blindness in older individuals, according to a study published online Sunday in the journal Nature Genetics.

The AMD Gene Consortium study also confirmed that 12 regions of the human genome (also known as loci) previously identified by scientists were also associated with age-related macular degeneration (AMD).

According to the National Eye Institute (NEI), the research which was led by experts from the University of Michigan, Boston University, Vanderbilt University, and the University of Regensburg in Germany represents the most comprehensive genome-wide analysis of genetic variations associated with AMD.

Officials with Vanderbilt University Medical Center said that the research could point to new biological pathways and therapeutic targets for AMD. In addition, Jonathan Haines, Ph.D., director of the Nashville, Tennessee-based universitys Center for Human Genetics Research, said that their efforts have made it possible to explain nearly two-thirds of the genetics associated with the development of this degenerative eye condition.

The NEI, which is a part of the US National Institutes of Health and supported the AMD Gene Consortiums efforts, explained that the condition targets a persons macula, or the part of the retina responsible for central vision. The macula typically helps people in tasks that require sharp vision, including reading and driving. However, AMD makes those tasks more difficult and eventually impossible as it progresses, and there is no known cure.

In their research, the consortium looked at data for more than 17,000 of the estimated two million Americans currently suffering from AMD. The test subjects each had more advanced, severe forms of the condition, and their genetic information as compared to that of over 60,000 people not suffering from the condition.

The 19 loci that were found to be associated with AMD implicate a variety of biological functions, including regulation of the immune system, maintenance of cellular structure, growth and permeability of blood vessels, lipid metabolism and atherosclerosis, researchers from Boston University Medical Center explained in a statement.

Further comprehensive DNA analysis of the areas around the 19 loci identified by the AMD Gene Consortium could turn up undiscovered rare genetic variants with a disproportionately large effect on AMD risk, they added. Discovery of such genes could greatly advance scientists understanding of AMD pathogenesis and their quest for more effective treatments.

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The Genetics Behind Age-related Macular Degeneration Detailed In New Study