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Week of March 11, 2013


Genetic risk factors found to be associated with eye disorder

The discovery of seven new regions of the human genome associated with macular degeneration could help scientists better understand who reaches the most severe stages of the disorder, a U-M researcher says.

Gonçalo Abecasis, the Felix Moore Collegiate Professor of Biostatistics at the School of Public Health, is one member of an international group of researchers to make the latest discovery of loci associated with increased risk of age-related macular degeneration, a leading cause of blindness. The AMD Gene Consortium, a network of international investigators representing 18 research groups, also confirmed the 12 loci identified in previous studies.

“Among the 12 previously known regions, the ones that have been examined in depth appear to predict onset of early stages of disease. We hope the new regions will help us predict a little better who’s going to get the most severe forms of the disorder,” Abecasis said. “We now want to look at each of these regions in detail and pin down the very specific culprit.”

The findings are reported online in the journal Nature Genetics.

“The current study broadens our understanding of disease biology and provides many new targets for intervention. It is exciting to think that detailed analysis of these candidates will lead to the development of new treatments for this debilitating disease,” says first author Lars Fritsche, who started work on the study while at the University of Regensburg and is now a postdoctoral research fellow at the School of Public Health.

Supported by the National Eye Institute, a part of the National Institutes of Health, the study represents the most comprehensive genome-wide analysis of genetic variations associated with AMD. The consortium’s analysis included data from more than 17,000 people with the most advanced and severe forms of AMD, which were compared to data from more than 60,000 people without the disorder.

“This compelling analysis by the AMD Gene Consortium demonstrates the enormous value of effective collaboration,” said NEI Director Paul Sieving. “Combining data from multiple studies, this international effort provides insight into the molecular basis of AMD.”

An additional first author was Wei Chen, who was an SPH post-doctoral student during the study and now is at Children’s Hospital of Pittsburgh.


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