Age-related macular degeneration (AMD) has been associated with a new gene, according to an article released on October 7, 2008 in The Lancet...
Dr Sarah Ennis and Professor Andrew Lotery, University of Southampton, UK, and colleagues examined a group of patients in the UK with AMD and a group of controls, screening 32 genes previously identified to be potentially involved in the chemical pathways related to AMD. The SERPING1 gene, a part of the so called 'complement' system in the eye that assists with clearance of foreign material and infection, was found in a higher proportion of the AMD patients than in the controls.
Subsequently, the study was repeated in a group of patients 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 age-related macular degeneration and SERPING1, with supporting evidence from an independent replication and a secondary high-density scan of the gene...genetic variation in SERPING1 may implicate the classic pathway of complement activation in AMD...Our findings add to the growing
understanding of the genetics of age-related macular degeneration, which should ultimately lead to novel treatments for this common and devastating disease," the authors conclude.
Dr. Glen J. Chiasson
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