Sci. Aging Knowl. Environ., 16 March 2005
Vol. 2005, Issue 11, p. or6


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, and Josephine Hoh

Abstract: Science 10 March 2005 (10.1126/science.1109557) (Science Express Reports)

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 SNPs genotyped, an intronic and common variant in the complement factor H gene (CFH) is strongly associated with AMD (nominal P value <10–7). Individuals homozygous for the risk alleles have a 7.4-fold increased likelihood of AMD (95% CI 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.


Science of Aging Knowledge Environment. ISSN 1539-6150