The Lancet reports Genetic defect increases risk of AMD

The October 2008 issue of the British Medical Journal Lancet has reported an important new discovery about the genetics of Age-Related Macular Degeneration (AMD).

Authors Sarah Ennis and Andrew Lotery of the University of Southampton, UK studied 479 patients with AMD and 479 age-matched controls. They then evaluated all their subjects for 32 genes suspected of playing a role in this retinal disease.

The authors discovered that the SERPING1 gene, which is involved in the complement protein system that is responsible for clearing foreign material and infection, was critically important. Specifically, the discovered a variant of the SERPING1 that was distorted in people with macular degeneration compared with the controls.

And they went further to corroborate their findings.

They not only replicated their findings in a study of patients in the United States, they conducted a high-density analysis which revealed five more variants of the SERPING1 gene that were involved in macular degeneration.

The authors concluded that the genetic variations in the SERPING1 gene suggest that complement activation is an important step in the development of macular degeneration and this fact may help to guide future treatments of this devastating visual condition.