Complement C3 Variant and the Risk of Age-Related Macular Degeneration

• Published in: The New England journal of medicine Vol. 357; no. 6; pp. 553 - 561
• Main Authors: Yates, John R.W, Sepp, Tiina, Matharu, Baljinder K, Khan, Jane C, Thurlby, Deborah A, Shahid, Humma, Clayton, David G, Hayward, Caroline, Morgan, Joanne, Wright, Alan F, Armbrecht, Ana Maria, Dhillon, Baljean, Deary, Ian J, Redmond, Elizabeth, Bird, Alan C, Moore, Anthony T
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 09.08.2007
• Subjects: Aged; Biological and medical sciences; Case-Control Studies; Comparative studies; Complement C3 - chemistry; Complement C3 - genetics; Complement C5 - genetics; Epidemiology; Female; General aspects; Genetic Predisposition to Disease; Genetics; Genotype; Humans; Logistic Models; Macular degeneration; Macular Degeneration - genetics; Male; Medical sciences; Odds Ratio; Polymorphism, Single Nucleotide; Protein Structure, Quaternary; Public health. Hygiene; Public health. Hygiene-occupational medicine; Risk factors; United Kingdom > UK; England; Scotland; British Isles, England; Macular degeneration; Medicine; Variant; Eye disease; Retinopathy; Genetic variability; Complement C3; Risk factor; Genotype; Risk; Age related macular degeneration; Epidemiology
• ISSN: 0028-4793; 1533-4406; 1533-4406
• DOI: 10.1056/NEJMoa072618

A variant on complement factor 3 is associated with age-related macular degeneration, with a population attributable risk of 22%. This finding underlines the importance of complement activation in the pathogenesis of the disease. A variant on complement factor 3 is associated with age-related macular degeneration, with a population attributable risk of 22%. Age-related macular degeneration is the leading cause of visual impairment in the elderly and the most common cause of blindness in Western countries. 1 It affects the macular region of the retina. The macula has a high density of photoreceptors and provides detailed central vision. In the early stages of the disease (referred to as age-related maculopathy), deposits called drusen develop between the retinal pigment epithelium and underlying choroid. 1 Later, the disease is manifested as either extensive atrophy of the retinal pigment epithelium and overlying photoreceptor cells (geographic atrophy) or aberrant choroidal angiogenesis (choroidal neovascularization). 1 Both of these conditions can lead . . .