Researchers Identify Gene Linked to Decreased Risk of AMD

In a study funded by the Foundation Fighting Blindness, researchers have found that a gene known as LIPC appears to be associated with a decreased risk of developing age-related macular degeneration (AMD), the leading cause of blindness in Americans 55 years-of-age and older. The finding gives researchers more clues about AMD, a complex disease caused by multiple genetic and environmental factors, and potentially new targets for vision-saving preventions and treatments.

LIPC is involved in raising levels of high density lipoprotein (HDL) cholesterol or “good” cholesterol. While higher levels of HDL are considered protective against cardiovascular disease, investigators caution that HDL levels may not affect AMD risk.  Rather, they believe that LIPC has multiple effects on the body, and further research is needed to understand how LIPC specifically affects the retina.

The study was led by Johanna Seddon, M.D., Sc.M., professor of ophthalmology at Tufts University School of Medicine and director of the Ophthalmic Epidemiology and Genetics Service at Tufts Medical Center. Collaborators included investigators from Massachusetts General Hospital, Johns Hopkins University School of Medicine, University of Utah School of Medicine, Columbia University, Washington University School of Medicine (St. Louis), and University of Paris (Creteil, France).

Dr. Seddon’s original study involved scanning the genome of 979 individuals with advanced AMD and 1,709 unaffected individual. Genome scanning was replicated in seven additional groups comprised of 5,789 affected individuals and 4,234 unaffected individuals.

Results of the study were published in the Proceedings of the National Academy of Sciences on April 12, 2010