Article
Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency.
Human molecular genetics - 1 Apr 2011
Friedrich Ulrike, Myers Connie A, Fritsche Lars G, Milenkovich Andrea, Wolf Armin, Corbo Joseph C, Weber Bernhard H F
Abstract excerpt
Fifteen variants in 10q26 are in strong linkage disequilibrium and are associated with an increased risk for age-related macular degeneration (AMD), a frequent cause of blindness in developed countries. These variants tag a single-risk haplotype encompassing the genes ARMS2 (age-related maculopathy susceptibility 2) and part of HTRA1 (HtrA serine peptidase 1). To define the true AMD susceptibility gene in 10q26,...
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