Authors
Jonathan L Haines, Michael A Hauser, Silke Schmidt, William K Scott, Lana M Olson, Paul Gallins, Kylee L Spencer, Shu Ying Kwan, Maher Noureddine, John R Gilbert, Nathalie Schnetz-Boutaud, Anita Agarwal, Eric A Postel, Margaret A Pericak-Vance
Publication date
2005/4/15
Journal
Science
Volume
308
Issue
5720
Pages
419-421
Publisher
American Association for the Advancement of Science
Description
Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD. We used single-nucleotide polymorphisms to interrogate this region and identified a strongly associated haplotype in two independent data sets. DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This common variant likely explains ∼43% of AMD in older adults.
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