title: Complement factor H polymorphism and age-related macular degeneration.
abstract: Age-related macular degeneration (AMD) is a common, late-onset, and complex trait with multiple risk factors. Concentrating on a region harboring a locus for AMD on 1q25-31, the ARMD1 locus, we tested single-nucleotide polymorphisms for association with AMD in two independent case-control populations. Significant association (P = 4.95 x 10(-10)) was identified within the regulation of complement activation locus and was centered over a tyrosine-402 --> histidine-402 protein polymorphism in the gene encoding complement factor H. Possession of at least one histidine at amino acid position 402 increased the risk of AMD 2.7-fold and may account for 50% of the attributable risk of AMD.
authors.affiliation: Department of Ophthalmology and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center (UTSWMC), 5323 Harry Hines Boulevard, Dallas, TX 75390, USA. albert-edwards@swbell.net
authors.forename: Albert O
authors.initials: AO
authors.lastname: Edwards
authors.forename: Robert
authors.initials: R
authors.lastname: Ritter
authors.forename: Kenneth J
authors.initials: KJ
authors.lastname: Abel
authors.forename: Alisa
authors.initials: A
authors.lastname: Manning
authors.forename: Carolien
authors.initials: C
authors.lastname: Panhuysen
authors.forename: Lindsay A
authors.initials: LA
authors.lastname: Farrer
mesh_terms: D000368:Aged; D000483:Alleles; D019943:Amino Acid Substitution; D016022:Case-Control Studies; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D003167:Complement Activation / Q000235:genetics; D017242:Complement Factor H / Q000235:genetics* / Q000502:physiology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006639:Histidine; D006720:Homozygote; D006801:Humans; D015810:Linkage Disequilibrium; D008268:Macular Degeneration / Q000209:etiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D005810:Multigene Family; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D014443:Tyrosine
chemical_list: C493495:CFH protein, human; D014443:Tyrosine; D006639:Histidine; D017242:Complement Factor H