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Complement Factor H Polymorphism in Age-Related Macular Degeneration

  • Robert J. Klein
  • Caroline Zeiss
  • Emily Y. Chew
  • Jen-Yue Tsai
  • Richard S. Sackler
  • Chad Haynes
  • Alice K. Henning
  • John Paul SanGiovanni
  • Shrikant M. Mane
  • Susan T. Mayne
  • Michael B. Bracken
  • Frederick L. Ferris
  • Jurg Ott
  • Colin Barnstable
  • Josephine Hoh.
Publication Date
Mar 10, 2005
  • Biology
  • Mathematics


Age-related macular degeneration (AMD) is a major cause of blindness in the elderly. We report a genome-wide screen of 96 cases and 50 controls for polymorphisms associated with AMD. Among 116,204 single-nucleotide polymorphisms genotyped, an intronic and common variant in the complement factor H gene (CFH) is strongly associated with AMD (nominal P value <10−7). In individuals homozygous for the risk allele, the likelihood of AMD is increased by a factor of 7.4 (95% confidence interval 2.9 to 19). Resequencing revealed a polymorphism in linkage disequilibrium with the risk allele representing a tyrosine-histidine change at amino acid 402. This polymorphism is in a region of CFH that binds heparin and C-reactive protein. The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies.

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