Complement factor H polymorphism in age-related macular degeneration by Klein Robert J, Zeiss Caroline, Chew Emily Y, Tsai Jen-Yue, Sackler Richard S, Haynes Chad, Henning Alice K, SanGiovanni John Paul, Mane Shrikant M, Mayne Susan T, Bracken Michael B, Ferris Frederick L, Ott Jurg, Barnstable Colin, Hoh Josephine in Science (New York, N.Y.) (2005).

[PMID: 15761122] PubMed


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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