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

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; rs75...

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Bibliographic Details
Published in:Molecular vision 2011-02, Vol.17, p.616-620
Main Authors: Mossböck, Georg, Weger, Martin, Faschinger, Christoph, Schmut, Otto, Renner, Wilfried, Wedrich, Andreas, Zimmermann, Christina, El-Shabrawi, Yosuf
Format: Article
Language:English
Subjects:
Aged
Cholesterol
Cholesterol 24-Hydroxylase
Data processing
Enzymes
Female
Gene Frequency - genetics
Gene polymorphism
Genetic Predisposition to Disease
Glaucoma
Glaucoma, Open-Angle - enzymology
Glaucoma, Open-Angle - genetics
Humans
Male
Metabolites
Polymerase chain reaction
Polymorphism, Single Nucleotide - genetics
Risk factors
Single-nucleotide polymorphism
Steroid Hydroxylases - genetics
Vision
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Summary: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. The present institutional study comprised a total of 581 unrelated subjects: 330 patients with POAG, and 251 control subjects. Main outcome measures are genotype distributions and allelic frequencies determined by polymerase chain reaction. No significant differences in either genotype distribution or allelic frequencies were found between patients with POAG and control subjects (p>0.05). The presence of the rs754203 T-allele was associated with a nonsignificant odds ratio of 0.81 (95% CI: 0.63-1.04; p=0.11) for POAG. Our data suggest that the rs754203 polymorphism itself is unlikely a genetic risk factor for POAG in Caucasian individuals.
ISSN:1090-0535
1090-0535