Role of cholesterol 24S-hydroxylase gene polymorphism (rs754203) in primary open angle glaucoma.

ABSTRACT:

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 confirmation in other studies. The purpose of the present study was to investigate a hypothesized association between rs754203 and the presence of POAG in a Central European population of Caucasian descent.

Methods

The present institutional study comprised a total of 581 unrelated subjects: 330 patients with POAG, and 251 control subjects. Main outcome measures are gen

SUBMITTER: Mossbock G 

PROVIDER: S-EPMC3049739 | biostudies-literature | 2011 Feb

REPOSITORIES: biostudies-literature