Literature DB >> 15761122

Complement factor H polymorphism in age-related macular degeneration.

Robert J Klein1, 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.   

Abstract

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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Year:  2005        PMID： 15761122      PMCID： PMC1512523          DOI： 10.1126/science.1109557

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


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