An international group of researchers has discovered seven regions of the human genome—called loci—that are newly associated with increased risk of age-related macular degeneration (AMD), a leading cause of blindness. The AMD Gene Consortium, a network of international investigators representing 18 research groups, also confirmed 12 AMD-associated loci identified in previous studies. The new study, which was published online on March 3, 2013 in Nature Genetics and represents the most comprehensive genome-wide analysis of genetic variations associated with AMD, was supported by the National Eye Institute (NEI), a part of the National Institutes of Health. Lindsay A. Farrer, Ph.D., chief of the biomedical genetics section and professor at Boston University Schools of Medicine (BUSM) and Public Health (BUSPH), is a co-lead author of the study. "This compelling analysis by the AMD Gene Consortium demonstrates the enormous value of effective collaboration," said NEI Director Paul A. Sieving, M.D., Ph.D. "Combining data from multiple studies, this international effort provides insight into the molecular basis of AMD, which will help researchers search for causes of the disease and will inform future development of new diagnostic and treatment strategies." Since the 2005 discovery that certain variations in the gene for complement factor H—a component of the immune system—are associated with major risk for AMD, research groups around the world have conducted genome-wide association studies to identify other loci that affect AMD risk. These studies were made possible by tools developed through the Human Genome Project, which mapped human genes, and related projects, such the International HapMap Project, which identified common patterns of genetic variation within the human genome.
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