title: Mechanism of inflammation in age-related macular degeneration: an up-to-date on genetic landmarks.
abstract: Age-related macular degeneration (AMD) is the most common cause of irreversible visual impairment among people over 50 years of age, accounting for up to 50% of all cases of legal blindness in Western countries. Although the aging represents the main determinant of AMD, it must be considered a multifaceted disease caused by interactions among environmental risk factors and genetic backgrounds. Mounting evidence and/or arguments document the crucial role of inflammation and immune-mediated processes in the pathogenesis of AMD. Proinflammatory effects secondary to chronic inflammation (e.g., alternative complement activation) and heterogeneous types of oxidative stress (e.g., impaired cholesterol homeostasis) can result in degenerative damages at the level of crucial macular structures, that is photoreceptors, retinal pigment epithelium, and Bruch's membrane. In the most recent years, the association of AMD with genes, directly or indirectly, involved in immunoinflammatory pathways is increasingly becoming an essential core for AMD knowledge. Starting from the key basic-research notions detectable at the root of AMD pathogenesis, the present up-to-date paper reviews the best-known and/or the most attractive genetic findings linked to the mechanisms of inflammation of this complex disease.
authors.affiliation: Department of Biomedical and Specialty Surgical Sciences, Ophthalmology Unit, University of Ferrara, Corso Giovecca 203, 44121 Ferrara, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Parmeggiani
authors.affiliation: Department of Biomedical and Specialty Surgical Sciences, Ophthalmology Unit, University of Ferrara, Corso Giovecca 203, 44121 Ferrara, Italy.
authors.forename: Francesco S
authors.initials: FS
authors.lastname: Sorrentino
authors.affiliation: Department of Ophthalmology, Istituto Clinico Humanitas, Milan, Italy ; Department of Health Sciences, University of Molise, Campobasso, Italy.
authors.forename: Mario R
authors.initials: MR
authors.lastname: Romano
authors.affiliation: Department of Health Sciences, University of Molise, Campobasso, Italy.
authors.forename: Ciro
authors.initials: C
authors.lastname: Costagliola
authors.affiliation: Department of Ophthalmology, University of Brescia, Brescia, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Semeraro
authors.affiliation: Department of Biomedical and Specialty Surgical Sciences, Ophthalmology Unit, University of Ferrara, Corso Giovecca 203, 44121 Ferrara, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Incorvaia
authors.affiliation: Department of Biomedical and Specialty Surgical Sciences, Ophthalmology Unit, University of Ferrara, Corso Giovecca 203, 44121 Ferrara, Italy.
authors.forename: Sergio
authors.initials: S
authors.lastname: D'Angelo
authors.affiliation: Department of Biomedical and Specialty Surgical Sciences, Ophthalmology Unit, University of Ferrara, Corso Giovecca 203, 44121 Ferrara, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Perri
authors.affiliation: Department of Biomedical and Specialty Surgical Sciences, Ophthalmology Unit, University of Ferrara, Corso Giovecca 203, 44121 Ferrara, Italy ; Center for Retinitis Pigmentosa of Veneto Region, ULSS 15 Alta Padovana, Camposampiero, Italy.
authors.forename: Katia
authors.initials: K
authors.lastname: De Nadai
authors.affiliation: Department of Biomedical and Specialty Surgical Sciences, Medical Genetic Unit, University of Ferrara, Ferrara, Italy.
authors.forename: Elia
authors.initials: E
authors.lastname: Bonomo Roversi
authors.affiliation: Department of Biomedical and Specialty Surgical Sciences, Medical Genetic Unit, University of Ferrara, Ferrara, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Franceschelli
authors.affiliation: Department of Biomedical and Specialty Surgical Sciences, Ophthalmology Unit, University of Ferrara, Corso Giovecca 203, 44121 Ferrara, Italy.
authors.forename: Adolfo
authors.initials: A
authors.lastname: Sebastiani
authors.affiliation: Department of Biomedical and Specialty Surgical Sciences, Medical Genetic Unit, University of Ferrara, Ferrara, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Rubini
mesh_terms: D000375:Aging; D002784:Cholesterol / Q000378:metabolism; D002874:Chromosome Mapping; D003165:Complement System Proteins / Q000378:metabolism; D014644:Genetic Variation; D006706:Homeostasis; D006801:Humans; D007249:Inflammation / Q000473:pathology*; D008049:Lipase / Q000235:genetics; D008268:Macular Degeneration / Q000175:diagnosis* / Q000235:genetics* / Q000276:immunology; D018384:Oxidative Stress; D012307:Risk Factors; D019717:Tissue Inhibitor of Metalloproteinase-3 / Q000235:genetics
chemical_list: C088390:TIMP3 protein, human; D019717:Tissue Inhibitor of Metalloproteinase-3; D003165:Complement System Proteins; D002784:Cholesterol; D008049:Lipase