Inactivating mutations in NPC1L1 and protection from coronary heart disease.

Publication Type:

Journal Article


The New England journal of medicine, Volume 371, Issue 22, p.2072-82 (2014)


Adult, African Continental Ancestry Group, Asian Continental Ancestry Group, Case-Control Studies, Cholesterol, LDL, Coronary Disease, European Continental Ancestry Group, Exons, Female, Gene Silencing, Genotype, Humans, Male, Membrane Proteins, Middle Aged, Mutation, Protein Conformation, RISK, Sequence Analysis, DNA, Triglycerides


Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.