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A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, includingExpand
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Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people.
Pseudoexfoliation syndrome is a generalized disorder of the extracellular matrix, characterized by the pathological accumulation of abnormal fibrillar material in the anterior segment of the eyeExpand
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The epsilon2 and epsilon4 alleles of the apolipoprotein gene are associated with age-related macular degeneration.
PURPOSE To date, of all the genes studied in relation to age-related macular degeneration (AMD), the alleles of the apolipoprotein (apoE) gene have been the most consistently associated with disease.Expand
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Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration
Despite significant progress in the identification of genetic loci for age-related macular degeneration (AMD), not all of the heritability has been explained. To identify variants which contribute toExpand
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Amyloid precursor protein processing and retinal pathology in mouse models of Alzheimer’s disease
BackgroundRetinal ganglion cell loss is considered to be a cause of visual impairment in Alzheimer`s patients. Alterations in amyloid precursor protein (APP) processing and amyloid-β (Aβ)Expand
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Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortiumExpand
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Hypomethylation of the IL17RC promoter associates with age-related macular degeneration.
Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in the elderly population worldwide. Although recent studies have demonstrated strong genetic associationsExpand
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Insights into the Genetic Architecture of Early Stage Age-Related Macular Degeneration: A Genome-Wide Association Study Meta-Analysis
Genetic factors explain a majority of risk variance for age-related macular degeneration (AMD). While genome-wide association studies (GWAS) for late AMD implicate genes in complement, inflammatoryExpand
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Androgen Receptor Repeat Length Polymorphism Associated with Male-to-Female Transsexualism
BACKGROUND There is a likely genetic component to transsexualism, and genes involved in sex steroidogenesis are good candidates. We explored the specific hypothesis that male-to-female transsexualismExpand
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Evaluating the association between keratoconus and the corneal thickness genes in an independent Australian population.
PURPOSE A recent genome-wide association study (GWAS) identified six loci associated with central corneal thickness that also conferred associated risk of keratoconus (KC). We aimed to assess whetherExpand
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