title: [Y402H polymorphism in complement factor H and age-related macula degeneration (AMD)].
abstract: Age-related macular degeneration is a complex genetic disorder. Recent data suggest that the additive genetic risk for late-stage disease is more than two-thirds. Comprehensive genetic studies (candidate gene approaches, linkage and association studies) have been performed in recent years to identity the genetic risk factors at the molecular lavel. Very recently, a significant risk allele, Y402H, has been discovered in the complement factor H (CFH) gene. The relative risk of developing AMD has been estimated between 2.4-4.6 for heterozygotes and 3.3-7.4 for homozygotes. This polymorphism accounts for approximately 20-50% of the overall risk of developing AMD. In this review the results from molecular genetic studies in AMD are summarized, with a special emphasis on the recent data obtained for the CFH gene.
authors.affiliation: Augenklinik, Universität, Bonn. hendrik.scholl@ukb.uni-bonn.de
authors.forename: H P N
authors.initials: HP
authors.lastname: Scholl
authors.forename: B H F
authors.initials: BH
authors.lastname: Weber
authors.forename: M M
authors.initials: MM
authors.lastname: Nöthen
authors.forename: T
authors.initials: T
authors.lastname: Wienker
authors.forename: F G
authors.initials: FG
authors.lastname: Holz
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D017242:Complement Factor H / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005602:France / Q000453:epidemiology; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D015994:Incidence; D008268:Macular Degeneration / Q000097:blood* / Q000453:epidemiology* / Q000235:genetics; D011110:Polymorphism, Genetic; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H; D001189:Aryl Hydrocarbon Hydroxylases; C414206:CYP2A13 protein, human