Method for identifying altered vitamin d metabolism

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C12N 9/02 (2006.01) C12N 15/53 (2006.01)

Patent

CA 2638909

A method is provided for identifying an individual as having altered vitamin D metabolism comprising analyzing a biological sample from the individual for the presence of CYP24 SNPs and/or aberrantly spliced CYP24 mRNA. The presence of the SNPs and/or the aberrantly spliced CYP24 mRNA indicates that the individual has altered vitamin D metabolism. Also provided are methods for customizing dosages of biologically active vitamin D compounds for individuals who are determined to have altered vitamin D metabolism.

La présente invention concerne un procédé permettant d'identifier un individu dont le métabolisme de la vitamine D est altéré, ledit procédé comprenant l'analyse d'un échantillon biologique prélevé chez l'individu pour rechercher la présence de SNP CYP24 et/ou d'un ARNm de CYP24 épissé de manière aberrante. La présence des SNP et/ou de l'ARNm de CYP24 épissé de manière aberrante indique que l'individu présente une altération du métabolisme de la vitamine D. L'invention concerne également des procédés permettant de personnaliser la posologie de composés de vitamine D biologiquement actifs destinés aux individus qui ont été identifiés comme ayant un métabolisme de la vitamine D altéré.

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