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Science. 2005 Apr 15;308(5720):419-21. Epub 2005 Mar 10.

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

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  • 1Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

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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PMID:
15761120
[PubMed - indexed for MEDLINE]
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