New gene identified for age related macular degeneration AMD

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A new genetic association is established with the eye condition age-related macular degeneration (AMD), revealed by researchers.

The study is reported in The Lancet, conducted by Dr Sarah Ennis and Professor Andrew Lotery, University of Southampton, UK, and colleagues.

Age-related macular degeneration is the most prevalent form of visual impairment and blindness in developed countries. Genetic studies have made advancements in establishing the molecular cause of this disease, identifying mutations in the complement factor H (CFH) gene and a locus on chromosome 10 encompassing the HTRA1/LOC387715/ARMS2 genes. Variants in complement 3 (C3) and an HLA locus containing both factor B and C2 genes have also been implicated. Researchers aimed to identify further genetic risk factors for this disease.

The researchers looked at a UK sample of patients with AMD (479) and controls (479) and screened 32 genes potentially involved in the condition. They found an association with the SERPING1 gene, which is involved in production of proteins for the ‘complement’ system within the eye that helps clear foreign material and infection.

The authors conclude: “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.”

Source: Lancet, UK

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