title: [Update on the genetics of age-related macular degeneration].
abstract: The relationship between genetics and age-related macular degeneration is well established. Heritability has been estimated to be up to 70%. Recent studies have identified several chromosomal regions that are likely to contain susceptibility loci. Common variations in three genes (CFH, LOC 387715 and C2-FB) strongly influence the risk of age-related macular degeneration. New findings in the field of the genetics of age-related macular degeneration are a starting point toward understanding the causes of AMD and for future therapeutic studies.
authors.affiliation: Centre Ophtalmologique d'Imagerie et de Laser, Paris, France. franck.fajnkuchen@avc.aphp.fr
authors.forename: F
authors.initials: F
authors.lastname: Fajnkuchen
authors.forename: S Y
authors.initials: SY
authors.lastname: Cohen
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002874:Chromosome Mapping; D003175:Complement C2 / Q000235:genetics; D011415:Complement Factor B / Q000235:genetics; D017242:Complement Factor H / Q000235:genetics / Q000502:physiology; D003170:Complement Pathway, Alternative; D004781:Environmental Exposure; D044127:Epigenesis, Genetic; D005260:Female; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease; D005838:Genotype; D000074289:High-Temperature Requirement A Serine Peptidase 1; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D015810:Linkage Disequilibrium; D008268:Macular Degeneration / Q000453:epidemiology / Q000209:etiology / Q000235:genetics* / Q000628:therapy; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics; D012697:Serine Endopeptidases / Q000235:genetics
chemical_list: C514392:ARMS2 protein, human; C493495:CFH protein, human; D003175:Complement C2; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C435927:PLEKHA1 protein, human; D011506:Proteins; C068563:complement C2, C allele protein; D017242:Complement Factor H; D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases; D011415:Complement Factor B