Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration

By J. Haines, M. Hauser, S. Schmidt, W. Scott, L. Olson, P. Gallins, Kylee L. Spencer, S. Y. Kwan, M. Noureddine, J. Gilbert and 4 more. Science, 2005

2,535 citations recorded by the source corpus.

Subfields: Ophthalmology, Radiology, Nuclear Medicine and Imaging

View Paper: https://www.semanticscholar.org/paper/930000cd89036622bddf8a62bb3b84deb58e97b5

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Ophthalmology

1. I. Bhutto
2. G. Lutty

In Radiology, Nuclear Medicine and Imaging

1. Hakon Hakonarson

Citations in the corpus

• Replicating genotype–phenotype associations (2007, background): “; complement factor H ( CFH ) and age-related macular degeneratio”
• 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).”
• Analysing biological pathways in genome-wide association studies (2010, result): “For example, previous GWA studies demonstrated that complement factor H is a strong risk factor for age-related macular degeneration (AMD”
• 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”
• The Pivotal Role of the Complement System in Aging and Age-related Macular Degeneration: Hypothesis Re-visited (2009, neutral): “…and sequence variants of several complement pathwayassociated genes including: Complement factor H (CFH) (Edwards et al., 2005; Hageman et al., 2005; Haines et al., 2005; Klein et al., 2005), complement factor B (CFB) and complement component 2 (C2) (Gold et al., 2006; Jakobsdottir et al., 2008).”
• Complement - a key system for immune surveillance and homeostasis (2010, background): “, GWAS identified polymorphisms in the fH gene as major risk factors for AM”
• 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).”
• Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait (2010, neutral): “A landmark discovery came in 2005 when genetic association studies identified the complement factor H ( CFH”
• Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration (2006, background): “During the early phases of this study, a common coding variant in CFH (rs1061170; Y402H) was reported to be associated with AM”