DOI: 10.1126/science.1110359 ISSN:
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, Margaret A. Pericak-Vance- Multidisciplinary
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.