Method of identifying disease risk factors

C - Chemistry – Metallurgy – 12 – Q

Patent

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Details

C12Q 1/68 (2006.01) G06F 19/20 (2011.01) G01N 33/53 (2006.01) C40B 30/00 (2006.01)

Patent

CA 2735578

Provided herein is a method for identifying a genetic variant that is associated with development of a condition of interest (e.g., Alzheimer's disease), and genetic variants so identified. Methods of treatment with an active agent (e.g., with a particular active agent and/or at an earlier age) is also provided, upon detecting a genetic variant described herein. In some embodiments, the genetic variant is a deletion/insertion polymorphism (DIP) of the TOMM40 gene. Kits for determining if a subject is at increased risk of developing late onset Alzheimer's disease is also provided. Kits for determining if a subject is responsive to treatment for a condition of interest with an active agent are further provided.

L'invention porte sur un procédé d'identification d'un variant génétique qui est associé au développement d'un état d'intérêt (par exemple, la maladie d'Alzheimer), et sur des variants génétiques ainsi identifiés. L'invention porte également sur des procédés de traitement par un agent actif (par exemple, par un agent actif particulier et/ou à un âge plus précoce), lors de la détection d'un variant génétique décrit ici. Dans certains modes de réalisation, le variant génétique est un polymorphisme de délétion/insertion (DIP) du gène TOMM40. L'invention porte également sur des kits pour déterminer si un sujet comporte un risque accru de développer la maladie d'Alzheimer à début tardif. L'invention porte en outre sur des kits pour déterminer si un sujet est sensible à un traitement pour un état d'intérêt par un agent actif.

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