title: Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration.
abstract: Age-related macular degeneration (AMD) is a chronic, degenerative, and significant cause of visual impairment and blindness in the elderly. Genetic and epidemiological studies have confirmed that AMD has a strong genetic component, which has encouraged the application of increasingly sophisticated genetic techniques to uncover the important underlying genetic variants. Although various genes and pathways have been implicated in the risk for AMD, complement activation has been emphasized repeatedly throughout the literature as having a major role both physiologically and genetically in susceptibility to and pathogenesis of this disease. This article explores the research efforts that brought about the discovery and characterization of the role of inflammatory and immune processes (specifically complement) in AMD. The focus herein is on the genetic evidence for the role of complement in AMD as supported specifically by genome-wide association (GWA) studies, which interrogate hundreds of thousands of variants across the genome in a hypothesis-free approach, and other genetic interrogation methods.
authors.affiliation: Department of Epidemiology and Biostatistics, Case Western Reserve University Medical Center, Cleveland, Ohio 44106.
authors.forename: Jessica N
authors.initials: JN
authors.lastname: Cooke Bailey
authors.affiliation: Hussman Institute of Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida 33136.
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.affiliation: Department of Epidemiology and Biostatistics, Case Western Reserve University Medical Center, Cleveland, Ohio 44106.
authors.forename: Jonathan L
authors.initials: JL
authors.lastname: Haines
mesh_terms: D003165:Complement System Proteins / Q000235:genetics* / Q000276:immunology / Q000502:physiology; D020022:Genetic Predisposition to Disease / Q000209:etiology / Q000235:genetics; D055106:Genome-Wide Association Study; D006801:Humans; D007249:Inflammation / Q000235:genetics / Q000276:immunology / Q000503:physiopathology; D008268:Macular Degeneration / Q000209:etiology / Q000235:genetics* / Q000276:immunology
chemical_list: D003165:Complement System Proteins