Article
Role of cholesterol 24S-hydroxylase gene polymorphism (rs754203) in primary open angle glaucoma.
Molecular vision - 26 Feb 2011
Mossböck Georg, Weger Martin, Faschinger Christoph, Schmut Otto, Renner Wilfried, Wedrich Andreas, Zimmermann Christina, El-Shabrawi Yosuf
Abstract excerpt
PURPOSE: The enzyme cholesterol 24S-hydroxylase (Cyp46A1) is responsible for the conversion of cholesterol to its more polar metabolite 24S-hydroxycholesterol, thereby enabling the intracerebral elimination of cholesterol. An intronic single nucleotide polymorphism in the gene CYP46A1 (IVS2 -150 T>C; rs754203) has recently been associated with primary open angle glaucoma (POAG). This association, however, lacks...
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