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Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Mossbock, G; Weger, M; Faschinger, C; Schmut, O; Renner, W; Wedrich, A; Zimmermann, C; El-Shabrawi, Y.
Role of cholesterol 24S-hydroxylase gene polymorphism (rs754203) in primary open angle glaucoma.
MOL VIS. 2011; 17(12): 616-620.
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- Leading authors Med Uni Graz
- Mossböck Georg
- Co-authors Med Uni Graz
- El-Shabrawi Yosuf
- Faschinger Christoph
- Renner Wilfried
- Schmut Otto
- Wedrich Andreas
- Weger Martin
- Zimmermann-Roth Christina
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- 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 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Aged -
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- Gene Frequency - genetics
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- Glaucoma, Open-Angle - enzymology Glaucoma, Open-Angle - genetics
- Humans -
- Male -
- Polymorphism, Single Nucleotide - genetics
- Steroid Hydroxylases - genetics