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Methods of identifying genetic risk for and evaluating treatment of alzheimer's disease by determining single nucleotide polymorphisms

机译:通过确定单核苷酸多态性鉴定遗传风险和评估阿尔茨海默氏病治疗的方法

摘要

Based on the unexpected identification of single nucleotide polymorphisms in the LIPA gene as novel genetic risk factors that link cholesterol metabolism to Alzheimer's disease, the present invention provides a method of diagnosing or prognosticating Alzheimer's disease, or determining the propensity or predisposition of a subject to develop Alzheimer's disease. The method comprises detecting the presence or absence of a variation in the LIPA gene which encodes the enzyme acid cholesteryl ester hydrolase. Furthermore, the invention provides methods of diagnosing Alzheimer's disease by using the CH25H gene and/or the LIPA gene and their corresponding gene products.
机译:基于LIPA基因中单核苷酸多态性的意外鉴定为将胆固醇代谢与阿尔茨海默氏病联系起来的新的遗传危险因素,本发明提供了一种诊断或预后阿尔茨海默氏病或​​确定受试者发展倾向或倾向的方法阿尔茨海默氏病。该方法包括检测LIPA基因中是否存在变异,该LIPA基因编码酸性胆甾醇酯水解酶。此外,本发明提供了通过使用CH25H基因和/或LIPA基因及其相应的基因产物来诊断阿尔茨海默氏病的方法。

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