Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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SHR Neuro Krebs Kardio Lipid

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. [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText


Autor/innen der Med Uni Graz:
El-Shabrawi Yosuf
Faschinger Christoph
Mossböck Georg
Renner Wilfried
Schmut Otto
Wedrich Andreas
Weger Martin
Zimmermann Christina

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Plum Analytics:
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 -
Female -
Gene Frequency - genetics
Genetic Predisposition to Disease -
Glaucoma, Open-Angle - enzymology Glaucoma, Open-Angle - genetics
Humans -
Male -
Polymorphism, Single Nucleotide - genetics
Steroid Hydroxylases - genetics

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