Article
Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.
Human molecular genetics - 1 Mar 2014
Iglesias Adriana I, Springelkamp Henriët, van der Linde Herma, Severijnen Lies-Anne, Amin Najaf, Oostra Ben, Kockx Christel E M, van den Hout Mirjam C G N, van Ijcken Wilfred F J, Hofman Albert, Uitterlinden André G, Verdijk Rob M, Klaver Caroline C W, Willemsen Rob, van Duijn Cornelia M
Abstract excerpt
Primary open-angle glaucoma (POAG) is a hereditary neurodegenerative disease, characterized by optic nerve changes including increased excavation, notching and optic disc hemorrhages. The excavation can be described by the vertical cup-disc ratio (VCDR). Previously, genome-wide significant evidence for the association of rs10483727 in SIX1-SIX6 locus with VCDR and subsequent POAG was found. Using 1000...
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