ArticleMolecular diagnosis & therapy2015
Efficacy of ezetimibe is not related to NPC1L1 gene polymorphisms in a pilot study of Chilean hypercholesterolemic subjects.
Article in Molecular diagnosis & therapy, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 6 citations in OpenAlex.
- Evaluation of the role of metabolizing enzymes and transporter variants in ezetimibe pharmacokinetics.Frontiers in pharmacology · 2024Article
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5 authors at 2 institutions in 1 country.
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Abstract
BACKGROUND AND
objectiveNiemann-Pick C1 Like 1 (NPC1L1) is a multi-transmembrane transport protein highly expressed in the small intestine. It mediates sterol transfer throughout the brush border membrane of enterocytes, becoming essential for intestinal cholesterol absorption and ensuing whole-body cholesterol homeostasis. This protein is targeted by ezetimibe, a potent cholesterol absorption inhibitor. Single nucleotide polymorphisms (SNPs) in NPC1L1 have been associated to variation in both plasma low-density lipoprotein (LDL) cholesterol levels and lipid-lowering medication with ezetimibe. However, there are no data evaluating the impact of NPC1L1 variants on Chilean subjects medicated with ezetimibe monotherapy. Therefore, we assessed the contribution of two unexplored NPC1L1 variants on plasma lipids and response to ezetimibe in Chilean hypercholesterolemic individuals.
methodsUsing PCR-restriction fragment length polymorphism (RFLP), we analyzed the SNP distribution of two common variants; -133A>G (rs17655652) and 1679C>G (rs2072183), and their relation with plasma lipids and lipid-lowering response to ezetimibe in 60 hypercholesterolemic Chilean subjects.
resultsGenotype distribution for the rs17655652 variant was AA 57 %, 40 % AG and 3 % GG, whereas for the rs2072183 SNP was 57 % CC, 35 % CG and 8 % GG. Minor allele frequencies (MAFs) were 0.23 and 0.26, respectively. No association was observed between NPC1L1 SNPs and baseline cholesterol. After therapy, none of the polymorphisms affected ezetimibe response in the studied cohort (P > 0.05).
conclusionData obtained indicates that polymorphisms rs17655652 and rs2072183 were not related to cholesterol variability. Also, lipid-lowering response to ezetimibe is not impacted by the NPC1L1 polymorphisms studied in Chilean hypercholesterolemic subjects.
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