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

Research output: Contribution to journalArticlepeer-review

3680 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)385-389
Number of pages5
Issue number5720
StatePublished - Apr 15 2005

All Science Journal Classification (ASJC) codes

  • General


Dive into the research topics of 'Complement factor H polymorphism in age-related macular degeneration'. Together they form a unique fingerprint.

Cite this