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 ∼43% of AMD in older adults.
Original language | English (US) |
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Pages (from-to) | 419-421 |
Number of pages | 3 |
Journal | Science |
Volume | 308 |
Issue number | 5720 |
DOIs | |
State | Published - Apr 15 2005 |
Externally published | Yes |
ASJC Scopus subject areas
- General