Rare gene variant linked to macular degeneration identified

Updated: Sep 17, 2013, 11:31 AM IST

Washington: Researchers have identified a gene mutation associated with age-related macular degeneration (AMD).

Co-senior Elaine R. Mardis, PhD, said that in the past studies of AMD, there is a clear relationship between the complement pathway and the onset of this disease.

Mardis asserted that the idea is that the gene variant interferes with the complement pathway's normal function throughout life, and that can damage the retina over time, which ultimately leads to AMD's emergence.

The researchers sequenced DNA from 10 regions of the genome that had been linked to AMD in previous genetic studies. They analyzed a total of 57 genes in 2,335 patients with macular degeneration.

Then the researchers sequenced the same genes in 789 people of the same age who did not have AMD.

The search turned up two gene variants: one in the C3 complement gene, and an alteration that had been identified in previous studies of macular degeneration.

The two gene variants together contribute to a three-fold increased risk for macular degeneration .

Mardis and her co-investigators hypothesize that the mutations work in tandem to increase AMD risk by interfering with the inactivation of complement in the retina.

The study has been published online in the journal Nature Genetics.