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Gene's discovery could help prevent a leading cause of blindness in the elderly

PITTSBURGH, Aug. 16 University of Pittsburgh researchers have discovered a gene linked to age-related maculopathy (ARM), the leading cause of untreatable blindness in the elderly. Their discovery suggests a simple test might be able to identify those at risk for what is commonly known as macular degeneration (AMD) and may lead to the development of more effective preventive strategies.

Researchers report that variations of a gene called PLEKHA1 are strongly associated with a person's risk of developing ARM. The results, a culmination of 15 years of research, will be published in the September issue of the American Journal of Human Genetics and are currently available online.

The discovery of the gene came about through the team's efforts to map the genes of 612 families affected by ARM and an additional 323 individuals without a history of macular degeneration. Pooling data from a number of gene mapping studies, researchers were able to identify multiple locations on the chromosomes where there are common gene variants among people with ARM. Specifically, researchers found that a region on one of these chromosomes, chromosome 10, was the one most likely to contain a major gene that influences the risk of ARM. Further analysis of chromosome 10 found that a variation in PLEKHA1 to be strongly associated with a person's risk of developing ARM.

Earlier this year, researchers from Rockefeller University, Yale University, The National Eye Institute, Duke University, Vanderbilt University, University of Texas Southwestern, and Boston University used similar methods to identify the first gene variant thought to be a major contributor to ARM, complement factor H (CFH) on chromosome 1. The Pittsburgh study confirms involvement of this gene and, for the first time, shows that the association results also accounted for findings from previous genetic studies of AMD families. Importantly, the new study found that having both CFH and PLEKHA1 indicate a
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