Article
Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration.
Human molecular genetics - 15 Aug 2007
Spencer Kylee L, Hauser Michael A, Olson Lana M, Schmidt Silke, Scott William K, Gallins Paul, Agarwal Anita, Postel Eric A, Pericak-Vance Margaret A, Haines Jonathan L
Abstract excerpt
Age-related macular degeneration (AMD) is a devastating disorder of the central retina, causing significant visual impairment for 7.5 million elderly Americans. Abnormal regulation of the complement system likely caused by the Y402H polymorphism in the complement factor H gene is a recognized risk factor for AMD, as is the A69S variant in the poorly characterized LOC387715 gene. Recently, polymorphisms in the...
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