Cyp46 genotype determination for risk and treatment...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C12Q 1/26 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2466596

Based on the unexpected identification of a CYP46 gene polymorphism as a novel genetic risk factor that links 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 CYP46 gene which encodes the enzyme cholesterol 24-hydroxylase.

A partir de l'identification de manière inattendue d'un polymorphisme du gène CYP46 en tant que nouveau facteur de risque qui associe le métabolisme du cholestérol à la maladie d'Alzheimer, la présente invention fournit un procédé permettant le diagnostic ou le pronostic de la maladie d'Alzheimer, ou la détermination de la propension ou la prédisposition d'un sujet à développer la maladie d'Alzheimer. Le procédé comporte la détection de la présence ou de l'absence d'une variation dans le gène CYP46 codant pour l'enzyme de cholestérol 24-hydroxylase

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