Article
Complement regulation at necrotic cell lesions is impaired by the age-related macular degeneration-associated factor-H His402 risk variant.
Journal of immunology (Baltimore, Md. : 1950) - 15 Oct 2011
Lauer Nadine, Mihlan Michael, Hartmann Andrea, Schlötzer-Schrehardt Ursula, Keilhauer Claudia, Scholl Hendrik P N, Charbel Issa Peter, Holz Frank, Weber Bernhard H F, Skerka Christine, Zipfel Peter F
Abstract excerpt
Age-related macular degeneration is a leading form of blindness in Western countries and is associated with a common SNP (rs 1061170/Y402H) in the Factor H gene, which encodes the two complement inhibitors Factor H and FHL1. However, the functional consequences of this Tyr(402) His exchange in domain 7 are not precisely defined. In this study, we show that the Tyr(402) His sequence variation affects Factor H...
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