Sci. Aging Knowl. Environ., 16 March 2005
Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration
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, and Margaret A. Pericak-Vancehttp://sageke.sciencemag.org/cgi/content/abstract/2005/11/or4
Abstract: Science 10 March 2005 (10.1126/science.1110359) (Science Express Reports)
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. Here we used single nucleotide polymorphisms (SNPs) to interrogate this region and identified a strongly associated haplotype in two independent data sets. DNA resequencing of the complement factor H gene (CFH) 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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