Journal
SCIENCE
Volume 308, Issue 5720, Pages 419-421Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1110359
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- NCRR NIH HHS [M01 RR-00095] Funding Source: Medline
- NEI NIH HHS [EY12118, EY015216] Funding Source: Medline
- NIA NIH HHS [AG11268] Funding Source: Medline
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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 similar to 43% of AMD in older adults.
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