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7 genetic risk factors found to be associated with common eye disorder
Date:3/4/2013

A professor from Case Western Reserve University School of Medicine is one of the lead authors of a study identifying seven new regions of the human genome that are associated with increased risk of age-related macular degeneration (AMD), a leading cause of blindness among older adults.

The AMD Gene Consortium, a network of international investigators representing 18 research groups, also confirmed the existence of 12 other regions called loci that had been identified in previous studies. The authors report their findings online in the journal Nature Genetics. Supported by the National Eye Institute (NEI), a part of the National Institutes of Health, the study represents the most comprehensive genome-wide analysis of genetic variations associated with AMD.

"This work represents a big step forward toward solving why some people get AMD, while others do not," said Sudha Iyengar, PhD, professor of epidemiology and biostatistics at Case Western Reserve School of Medicine and a member of the consortium's senior executive committee. "This disease is not caused by a single change in the DNA, but represents many events that accumulate over the lifetime of a patient. Identification of these genes provides molecular windows into the AMD disease process."

AMD affects the macula, a region of the retina responsible for central vision. The retina is the layer of light-sensitive tissue in the back of the eye that houses rod and cone photoreceptor cells. Compared with the rest of the retina, the macula is especially dense with cone photoreceptors; humans rely on the macula for tasks that require sharp vision, such as reading, driving, and recognizing faces. As AMD progresses, such tasks become more difficult and eventually impossible. Some kinds of AMD are treatable, but no cure exists. An estimated 2 million Americans suffer from AMD.

Since the 2005 discovery that certain variations in the gene for complement factor Ha compone
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Contact: Jessica Studeny
jessica.studeny@case.edu
216-368-4692
Case Western Reserve University
Source:Eurekalert

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