Article
An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).
Human molecular genetics - 1 Dec 2010
Fritsche Lars G, Lauer Nadine, Hartmann Andrea, Stippa Selina, Keilhauer Claudia N, Oppermann Martin, Pandey Manoj K, Köhl Jörg, Zipfel Peter F, Weber Bernhard H F, Skerka Christine
Abstract excerpt
A frequent deletion of complement factor H (CFH)-related genes CFHR3 and CFHR1 (ΔCFHR3/CFHR1) is considered to have a protective effect against age-related macular degeneration (AMD), although the underlying mechanism remains elusive. The deletion seems to be linked to one of the two protective CFH haplotypes which are both tagged by the protective allele of single nucleotide polymorphism rs2274700 (CFH:A473A)....
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