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

Joseph F Williamson1, Craig A McLure, Robyn H Guymer

  • 1C.Y. O'Connor ERADE Village Foundation, Canning Vale, Western Australia, Australia.

Genomics
|August 23, 2011
PubMed

Insights

Age-related macular degeneration (AMD) is a leading cause of blindness. Genetic analysis suggests that specific haplotypes within the Regulators of Complement Activation (RCA) region, not single gene variations, predict AMD susceptibility.

Area of Science:

  • Genetics
  • Ophthalmology
  • Immunology

Background:

  • Age-related macular degeneration (AMD) is a primary cause of vision loss in developed nations.
  • The Y402H polymorphism in the complement factor H gene (CFH) has been implicated as a key genetic determinant of AMD.
  • The Regulators of Complement Activation (RCA) gene cluster on chromosome 1 is a critical region for complement system regulation.

Purpose of the Study:

  • To investigate the role of genetic variations within the RCA region in the development of AMD.
  • To determine if specific haplotypes, rather than single nucleotide polymorphisms (SNPs), are associated with AMD risk.
  • To identify genetic markers with predictive value for AMD.

Main Methods:

  • Genotyping of the T1277C SNP and other loci within the RCA region.
  • Analysis of 187 AMD patients and 146 control subjects.
  • Haplotype analysis to classify genetic sequences as protective (P) or susceptible (S) for AMD.

Main Results:

  • Identification of a susceptible (S) haplotype associated with AMD, featuring a T at the 1277 position.
  • Evidence suggests that AMD is influenced by RCA haplotypes rather than isolated genetic loci.
  • The study identified a 450 kb centromeric to 128 kb telomeric region relative to CFH as containing critical sequences for AMD.

Conclusions:

  • AMD risk is associated with specific haplotypes in the RCA gene cluster.
  • Haplotypes within the RCA region possess predictive value for AMD development.
  • The critical genetic determinants for AMD are located within a defined region surrounding the CFH gene.

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