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

JL Haines, MA Hauser, S Schmidt, WK Scott, LM Olson… - Science, 2005 - science.org
JL Haines, MA Hauser, S Schmidt, WK Scott, LM Olson, P Gallins, KL Spencer, SY Kwan…
Science, 2005science.org
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 …
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.
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