Article
CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration.
Nature genetics - 1 Sept 2006
Li Mingyao, Atmaca-Sonmez Pelin, Othman Mohammad, Branham Kari E H, Khanna Ritu, Wade Michael S, Li Yun, Liang Liming, Zareparsi Sepideh, Swaroop Anand, Abecasis Gonçalo R
Abstract excerpt
In developed countries, age-related macular degeneration is a common cause of blindness in the elderly. A common polymorphism, encoding the sequence variation Y402H in complement factor H (CFH), has been strongly associated with disease susceptibility. Here, we examined 84 polymorphisms in and around CFH in 726 affected individuals (including 544 unrelated individuals) and 268 unrelated controls. In this sample,...
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