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Tuesday, August 23, 2005

Gene Variations Associated with Age-Related MD Discovered 

University of Pittsburgh researchers have discovered a variation of the gene PLEKHA1 that contributes to age-related maculopathy.


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.
'Gene's discovery could help prevent a leading cause of blindness in the elderly', University of Pittsburgh press release at EurekAlert, 21 August 2005.


The work adds to findings by other US scientists that the gene CFH contributes to age-related macular degeneration. The research is published in the September issue of the American Journal of Human Genetics (Volume 77, Number 3) and can be read online.

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