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Article

Identification of a Functional CYP2C8 Variant Allele that Alters Splicing, Reduces Protein Expression, and Increases Drug Exposure.

Clinical pharmacology and therapeutics - 1 Oct 2026

Mykkänen Anssi J H, Hirvensalo Päivi, Klein Kathrin, Kaminska Dorota, Grube Markus, Tapaninen Tuija, Kiiski Johanna I, Neuvonen Mikko, Männistö Ville T, Pihlajamäki Jussi, Tzvetkov Mladen, Schwab Matthias, Tornio Aleksi, Backman Janne T, Niemi Mikko

Abstract excerpt

This study investigated genetic determinants of the pharmacokinetics of the CYP2C8 index drugs repaglinide and gemfibrozil, and their interaction in healthy participants. Sequencing data from a study with montelukast revealed a novel functional CYP2C8 allele (rs2071426, CYP2C8*19), predicted to create an intronic splice donor site. In human liver samples, CYP2C8*19 associated with transcript-specific changes in...

Read the complete abstract on PubMed

Topics

Humans
Cytochrome P-450 CYP2C8

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Gemfibrozil

Male

Piperidines

Alleles

Carbamates

Female

Adult

Area Under Curve

Genotype

RNA Splicing

Liver-Specific Organic Anion Transporter 1

Cytochrome P-450 CYP2C8 Inhibitors

Cyclopropanes

Young Adult

Polymorphism, Single Nucleotide

Liver

Source

Open in PubMed Open full text

Identifiers

PMID: 42387303
DOI: 10.1002/cpt.70376
PMCID: PMC13338972

Genes

CYP2C8
SLCO1B1
SLCO1A2
SLCO1C1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

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Identification of a Functional CYP2C8 Variant Allele that Alters Splicing, Reduces Protein Expression, and Increases Drug Exposure.PMID 42387303Read ↗

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