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

Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Science (Impact Factor: 31.48). 05/2005; 308(5720):419-21. DOI: 10.1126/science.1110359
Source: PubMed

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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