Primary open-angle glaucoma: association with cholesterol 24S-hydroxylase (CYP46A1) gene polymorphism and plasma 24-hydroxycholesterol levels.

doi:10.1167/iovs.09-3655

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Article

Primary open-angle glaucoma: association with cholesterol 24S-hydroxylase (CYP46A1) gene polymorphism and plasma 24-hydroxycholesterol levels.

Investigative ophthalmology & visual science - 1 Dec 2009

Fourgeux Cynthia, Martine Lucy, Björkhem Ingemar, Diczfalusy Ulf, Joffre Corinne, Acar Niyazi, Creuzot-Garcher Catherine, Bron Alain, Bretillon Lionel

Abstract excerpt

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...

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PMID: 19553612
DOI: 10.1167/iovs.09-3655

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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