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Primary open-angle glaucoma: association with cholesterol 24S-hydroxylase (CYP46A1) gene polymorphism and plasma 24-hydroxycholesterol levels Inra
Fourgeux, C.; Lucy, M.; Björkhem, I.; Diczfalusy, U.; Joffre, C.; Acar, N.; Creuzot Garcher, C.; Bron, A.; Bretillon, L..
Purpose. Genetics has made significant contributions to the study of glaucoma over the past few decades. Cholesterol-24S-hydroxylase (CYP46A1) is a cholesterol-metabolizing enzyme that is especially expressed in retinal ganglion cells. CYP46A1 and its metabolic product, 24S-hydroxycholesterol, have been linked to neurodegeneration. A single-nucleotide polymorphism (SNP) in the CYP46A1 gene, designated as rs754203 and associated with Alzheimer disease, was evaluated as a genetic risk factor for primary open-angle glaucoma (POAG), as well as plasma 24S-hydroxycholesterol levels. Methods. The frequency of the CYP46*C and CYP46*T alleles was analyzed in 150 patients with POAG and 118 control subjects. Plasma 24S-hydroxycholesterol levels were quantified. Sex,...
Tipo: Journal Article Palavras-chave: NORMAL-TENSION GLAUCOMA; ALZHEIMERS-DISEASE; ; PRESSURE; RISK-FACTORS.
Ano: 2009 URL: http://www.prodinra.inra.fr/prodinra/pinra/doc.xsp?id=PROD2010b05f88bb&uri=/notices/prodinra1/2010/07/
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