Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration
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.
- Publication:
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Science
- Pub Date:
- April 2005
- DOI:
- 10.1126/science.1110359
- Bibcode:
- 2005Sci...308..419H
- Keywords:
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- GENETICS