[EN] CYP8B1 AND USES THEREOF IN THERAPEUTIC AND DIAGNOSTIC METHODS<br/>[FR] CYP8B1 ET SES UTILISATIONS DANS DES MÉTHODES THÉRAPEUTIQUES ET DIAGNOSTIQUES
申请人:XENON PHARMACEUTICALS INC
公开号:WO2014018375A1
公开(公告)日:2014-01-30
The present invention embodiments relate to the diagnosis, prevention and/or treatment of diseases related to abnormal lipid metabolism. More particularly, disclosed herein is the discovery in human subjects having elevated HDL of mutated human CYP8B1 encoding genes and their encoded proteins, and exploitation of this discovery for use in compositions and methods for the diagnosis, treatment and prevention of cardiovascular diseases, such as dyslipidemia, atherosclerosis, low HDL diseases and related disorders, including methods for identifying agents that modulate CYP8B1 activity. Accordingly there are provided methods for detecting, diagnosing, prognosing or determining a predisposition to diseases related to abnormal lipid metabolism, as well as CYP8B1-directed screening assays, kits, antibodies, agents, nucleic acids, polypeptides, cells, vectors, transgenic animals and compositions.