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. 2005 Apr 15;308(5720):419-21.
doi: 10.1126/science.1110359. Epub 2005 Mar 10.

Complement factor H variant increases the risk of age-related macular degeneration

Jonathan L Haines  1 , 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
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Complement factor H variant increases the risk of age-related macular degeneration

Jonathan L Haines et al. Science. .

Abstract

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 approximately 43% of AMD in older adults.

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