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 genotype distributions and allelic frequencies determined by 
polymerase chain reaction.
RESULTS: 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.
CONCLUSIONS: Our data suggest that the rs754203 polymorphism itself is unlikely 
a genetic risk factor for POAG in Caucasian individuals.