胆固醇24S-羟化酶基因多态性（rs754203）在原发性开角型青光眼中的作用
Role of cholesterol 24S-hydroxylase gene polymorphism (rs754203) in primary open angle glaucoma.
作者信息
Mossböck Georg, Weger Martin, Faschinger Christoph, Schmut Otto, Renner Wilfried, Wedrich Andreas, Zimmermann Christina, El-Shabrawi Yosuf
机构信息
Department of Ophthalmology, Medical University of Graz, Graz, Austria.
出版信息
Mol Vis. 2011 Feb 26;17:616-20.
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.
目的
胆固醇24S-羟化酶（Cyp46A1）负责将胆固醇转化为极性更强的代谢产物24S-羟胆固醇，从而实现胆固醇的脑内清除。CYP46A1基因中的一个内含子单核苷酸多态性（IVS2 -150 T>C；rs754203）最近被发现与原发性开角型青光眼（POAG）相关。然而，这种关联在其他研究中尚未得到证实。本研究的目的是调查rs754203与中欧白种人后裔人群中POAG的存在之间的假设关联。
方法
本机构研究共纳入581名无亲属关系的受试者：330例POAG患者和251例对照受试者。主要观察指标是通过聚合酶链反应确定的基因型分布和等位基因频率。
结果
POAG患者与对照受试者之间在基因型分布或等位基因频率上均未发现显著差异（p>0.0５）。rs754203 T等位基因的存在与POAG的非显著优势比0.81相关（95%CI：0.63-1.04；p=0.11）。
结论
我们的数据表明，rs754203多态性本身不太可能是白种人个体患POAG的遗传危险因素。
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