Researchers Discover Gene Believed Responsible for AMD

Researchers from Boston University School of Medicine, University of Texas Southwestern Medical Center at Dallas and Sequenom have discovered a genetic variation that is the strongest known risk factor associated for age-related macular degeneration (AMD).

Published in the March 10 online issue of the journal Science, the study titled, "Complement Factor H Polymorphism and Age-Related Macular Degeneration," details the discovery of the gene that may account for approximately 50 percent of the cases of AMD in the population.

The biological basis of this disorder, which is the most common cause of blindness in the elderly, is unclear. However, it was strongly suspected that genetics did play a role. The researchers tested single nucleotide polymorphisms for association of AMD in a region of 14 million base pairs on chromosome 1q25-31 where a gene for AMD had been previously localized in families with multiple persons affected with AMD. Using two independent case-control populations, the researchers found that possession of at least one copy of histidine at position 402 of complement factor H increased the risk of AMD almost three-fold.