Complement Factor H Polymorphism in Age-Related Macular Degeneration

By R. Klein, C. Zeiss, Emily Y. Chew, J. Tsai, R. Sackler, Chad Haynes, A. Henning, J. Sangiovanni, Shrikant M. Mane, S. Mayne and 5 more. Science, 2005

4,849 citations recorded by the source corpus.

Subfields: Hematology, Immunology, Ophthalmology

View Paper: https://www.semanticscholar.org/paper/50b8e1ac8936c864fbe155bc4ec3dbd61b5beab4

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In Hematology

F. S. Collins

In Immunology

In Ophthalmology

Citations in the corpus

Understanding age-related macular degeneration (AMD): Relationships between the photoreceptor/retinal pigment epithelium/Bruch’s membrane/choriocapillaris complex (2012, methodology): “Using DNA sequence data from the Human Genome Project, three independent groups demonstrated that a polymorphism (Tyr402His) in the CFH gene increases the risk of developing AMD (Edwards et al., 2005; Haines et al., 2005; Klein et al., 2005b).”
Estimation of the multiple testing burden for genomewide association studies of nearly all common variants (2008, background): “This additional testing may involve consideration of combinations of typed, promising SNPs that predict nearby alleles in the original samples [Klein et al., 2005; Wellcome Trust Case Control Consortium, 2007], of experimental, second stage typing of such alleles in additional samples [Arking et al.”
Para-inflammation in the aging retina. (2009, background): “The resurgence of interest in the role of complement activation in agerelated retinal disease, in particular age-related macular degeneration, is largely attributable to the discovery of the link between complement factor H (CFH) polymorphisms and the risk of agerelated macular degeneration (Edwards”
Complement regulators and inhibitory proteins (2009, background): “, the retinal disease age-related macular degeneration (AMD”
Learning your identity and disease from research papers: information leaks in genome wide association study (2009, methodology): “GWAS, with its’ first papers came out in 2005 [ 33 , 39], is a new population genetics approach that was enabled by the high throughput genome technology and advanced computational methods [51].”
Bayesian inference of epistatic interactions in case-control studies (2007, methodology): “We also applied BEAM to an association study of age-related macular degeneration (AMD”
Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits (2007, background): “These advances have already allowed the identification of genes that influence quantitative variation in heart disease–related phenotypes [16] and of susceptibility genes for age-related macular degeneration [17], inflammatory bowel disease [18], and type 2 diabetes [19].”
A random forest approach to the detection of epistatic interactions in case-control studies (2009, methodology): “As suggested in [25], we removed nonpolymorphic SNPs and those that significantly deviated from Hardy-Weinberg Equilibrium (HWE), and we removed all SNPs that had no reference SNP ID or had more than 5 missing genotypes to ensure the high quality of the remaining data.”
The Impact of Oxidative Stress and Inflammation on RPE Degeneration in Non-neovascular AMD (2017, background): “A decade ago, the discovery of polymorphisms in complement factor H (CFH) with up to a sevenfold increased risk of AMD introduced innate immunity as a pathophysiologic factor (Edwards et al., 2005; Hageman et al., 2005; Haines et al., 2005; Klein et al., 2005).”
Research review: Polygenic methods and their application to psychiatric traits. (2014, background): “References: Whalley et al. (2012); Demirkan et al.”