Article
Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His.
Human mutation - 1 Sept 2006
Grassi Michael A, Fingert John H, Scheetz Todd E, Roos Benjamin R, Ritch Robert, West Sheila K, Kawase Kazuhide, Shire Abdirashid M, Mullins Robert F, Stone Edwin M
Abstract excerpt
Age-related macular degeneration (AMD) is the most common cause of irreversible visual loss in the developed world. Previous studies have demonstrated that the c.1204T>C, p.Tyr402His allelic variant in the complement factor H (CFH) gene is associated with an approximately three-fold increased risk for AMD in Caucasians of predominantly European descent. Both the prevalence as well as the phenotypic spectrum of...
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