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BACKGROUND Age-related macular degeneration is the most common cause of blindness in Western populations. Susceptibility is influenced by age and by genetic and environmental factors. Complement activation is implicated in the pathogenesis. METHODS We tested for an association between age-related macular degeneration and 13 single-nucleotide polymorphisms(More)
PURPOSE The complement factor H (CFH) gene polymorphism Y402H (1277T-->C) has been associated with susceptibility to age-related macular degeneration (AMD). The purpose of this study was to confirm this association in a U.K. population, to determine whether the association holds for both geographic atrophy (GA) and choroidal neovascularization (CNV), and to(More)
Tuberous sclerosis (TSC) is an autosomal dominant condition characterised by tumour-like malformations (hamartomas) in the brain and other organs. A proportion of hamartomas from patients with TSC show loss of heterozygosity (LOH) for DNA markers in the region of either the TSCI gene on chromosome 9834 or the TSC2 gene on 16p13.3. This implies that these(More)
BACKGROUND Family history is considered a risk factor for age-related macular degeneration (AMD). With the advent of effective therapy for the disease, the importance of family history merits further investigation. This study quantifies the risk associated with family history, first, by a case-control study of reported family history and, second, by(More)
BACKGROUND Variation in the complement factor H gene (CFH) is associated with risk of late age-related macular degeneration (AMD). Previous studies have been case-control studies in populations of European ancestry with little differentiation in AMD subtype, and insufficient power to confirm or refute effect modification by smoking. METHODS To precisely(More)
Reecha Sofat, Juan P Casas, Andrew R Webster, Alan C Bird, Samantha S Mann, John RW Yates, Anthony T Moore, Tiina Sepp, Valentina Cipriani, Catey Bunce, Jane C Khan, Humma Shahid, Anand Swaroop, Gonçalo Abecasis, Kari E H Branham, Sepideh Zareparsi, Arthur A Bergen, Caroline CW Klaver, Dominique C Baas, Kang Zhang, Yuhong Chen, Daniel Gibbs, Bernhard H F(More)
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