Complement factor H polymorphism and age-related macular degeneration

  • Edwards A
  • Ritter 3rd R
  • Abel K
 et al. 
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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.

Author-supplied keywords

  • Aged
  • Alleles
  • Amino Acid Substitution
  • Case-Control Studies
  • Chromosomes
  • Complement Activation
  • Complement Activation/genetics
  • Complement Activation: genetics
  • Complement Factor H
  • Complement Factor H/genetics/physiology
  • Complement Factor H: genetics
  • Complement Factor H: physiology
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genotype
  • Haplotypes
  • Histidine
  • Homozygote
  • Human
  • Humans
  • Linkage Disequilibrium
  • Macular Degeneration
  • Macular Degeneration/etiology/genetics
  • Macular Degeneration: etiology
  • Macular Degeneration: genetics
  • Male
  • Middle Aged
  • Multigene Family
  • Pair 1
  • Pair 1/genetics
  • Pair 1: genetics
  • Polymorphism
  • Risk Factors
  • Single Nucleotide
  • Tyrosine
  • Variation (Genetics)

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  • Albert O Edwards

  • R Ritter 3rd

  • Kenneth J Abel

  • Alisa Manning

  • Carolien Panhuysen

  • Lindsay a Farrer

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