title: Almost total protection from age-related macular degeneration by haplotypes of the Regulators of Complement Activation.
abstract: Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. It has been proposed that the polymorphism encoding Y402H (T1277C) in the complement factor H gene (CFH) is one of the main determinants of disease. We genotyped the polymorphism at a number of loci in the region encompassing the Regulators of Complement Activation (RCA) on chromosome 1, including T1277C SNP, in 187 patients and 146 controls. Haplotypes have been classified as protective (P) or susceptible (S) with respect to AMD. This included the identification of an S haplotype with a T at 1277. The results show that no single locus should be assumed to be directly responsible for AMD, but rather argue for the existence of RCA haplotypes, which can be assigned meaningful predictive values for AMD. We conclude that the critical sequences are within a region 450 kb centromeric to 128 kb telomeric of CFH.
authors.affiliation: C.Y. O'Connor ERADE Village Foundation, Canning Vale, Western Australia, Australia.
authors.forename: Joseph F
authors.initials: JF
authors.lastname: Williamson
authors.forename: Craig A
authors.initials: CA
authors.lastname: McLure
authors.forename: Robyn H
authors.initials: RH
authors.lastname: Guymer
authors.forename: Paul N
authors.initials: PN
authors.lastname: Baird
authors.forename: John
authors.initials: J
authors.lastname: Millman
authors.forename: Stuart
authors.initials: S
authors.lastname: Cantsilieris
authors.forename: Roger L
authors.initials: RL
authors.lastname: Dawkins
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002878:Chromosomes, Human, Pair 1; D003167:Complement Activation / Q000235:genetics*; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D017242:Complement Factor H