title: Using inactivating mutations to provide insight into drug action.
abstract: The role of ezetimibe in lowering plasma cholesterol has been established; however, controversy remains about its clinical benefit. A recent study utilizes naturally occurring genetic variation within the NPC1-like 1 gene (NPC1L1) to demonstrate the potential for pharmacologic inhibition of the protein to reduce the risk of coronary heart disease. This research demonstrates the application of the concept of genocopy to a population-based validation of NPC1L1 as a therapeutic target.
authors: MRC Integrative Epidemiology Unit (IEU), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN UK.
authors: Laura J
authors: LJ
authors: Corbin
authors: MRC Integrative Epidemiology Unit (IEU), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN UK.
authors: Nicholas J
authors: NJ
authors: Timpson
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