New Gene Associated with Age-Related Macular Degeneration

A team of clinicians and scientists at the University of Southampton, UK, has identified an important new genetic association with age-related macular degeneration (AMD), the most common cause of blindness in developed countries.

The research, published online in The Lancet, adds to the growing understanding of the genetics of AMD. The authors believe this research will better help predict those at risk, and ultimately lead to better treatments.

The team, including Professor Andrew Lotery and his research group in the University’s Clinical Neurosciences Division, together with Dr. Sarah Ennis and Professor Andy Collins from the Genetic Epidemiology and Bioinformatics Group in the University’s Human Genetics Division, found an association with the SERPING1 gene, which is involved in production of proteins for the ‘compliment’ system within the eye, which helps clean foreign material infection.

Macular degeneration is characterized by visual impairment due to retinal damage. In developed countries, AMD is the most common type of vision loss. According to the study, 64% of people over the age of 80 have signs of the disease, with 12% of those cases likely to end in blindness.

SERPING1

Researchers examined a group of patients in the UK with AMD, as well a group of controls, screening 32 genes previously identified to be potentially involved in the chemical pathways related to AMD. The SERPING1 gene was found in a higher proportion of the AMD patients than in the controls.

The study was repeated in the US, with similar results. Further, upon a high-density analysis, five additional variants of the SERPING1 gene were discovered to be associated with AMD.

“Our study shows a strong association between AMD and SERPING1, with supporting evidence from an independent replication and a secondary high-density scan of the gene…genetic variation and SERPING1 may implicate the classic pathway of complement activation in AMD…Our findings add to the growing understanding of the genetics of AMD, which should ultimately lead to novel treatments for this common and devastating disease,” the authors conclude.

“It means we can diagnose people at an earlier stage and we can have more focused treatments, perhaps just even drug therapies that we can provide before people develop the late stages of the disease,” said Professor Andrew Lotery, from Southampton. “It totally changes our thinking about this disease and that’s very important, to get better treatments.”

Tom Bremridge, of the Macular Disease Society, said: “For the first time we’re on the edge of getting a cure for macular degeneration. Up (until) now, we’ve only been able to treat some forms of it…but this is a huge step.”