Almost total protection from age-related macular degeneration by haplotypes of the Regulators of Complement Activation

Joseph F. Williamson, Craig A. McLure, Robyn H. Guymer, Paul N Baird, John Millman, Stuart Cantsilieris, Roger L. Dawkins

Research output: Contribution to journalArticleResearchpeer-review

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)412-421
Number of pages10
JournalGenomics
Volume98
Issue number6
DOIs
Publication statusPublished - Dec 2011
Externally publishedYes

Keywords

  • Age-related macular degeneration
  • Ancestral haplotypes
  • Complement factor H
  • Genetic predisposition to disease
  • Haplotypes
  • Regulators of Complement Activation

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