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Abstract #28119 Published in IGR 13-1
Role of cholesterol 24S-hydroxylase gene polymorphism (rs754203) in primary open angle glaucoma
Mossbock G; Weger M; Faschinger C; Schmut O; Renner W; Wedrich A; Zimmermann C; El-Shabrawi YMolecular Vision 2011; 17: 616-620
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.
G. Mossbock. Department of Ophthalmology, Medical University of Graz, Auenbruggerplatz 4, 8036 Graz, Austria. g.mossboeck@medunigraz.at
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)