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Frequencies of CYP2B6 variants in a Finnish population

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Title: Frequencies of CYP2B6 variants in a Finnish population
Author(s): Fredman, Johannes
Contributor: University of Helsinki, Faculty of Medicine, Institute of Clinical Medicine
Discipline: Clinical Pharmacology
Language: English
Acceptance year: 2015
Cytochrome P-450 2B6 (CYP2B6) is a monoxygenase enzyme contributing to the metabolism of drugs and xenobiotics. Significant genetic variability in CYP2B6 exists in different ethnic groups, contributing to interindividual differences in pharmacokinetics and drug response. The aim of this study was to investigate the frequencies of CYP2B6 single nucleotide variations (SNVs) in the Finnish population. The frequencies of nine CYP2B6 SNVs were determined in 261 healthy Finnish volunteers by allelic discrimination with TaqMan 5'-nuclease assays. The variant allele frequencies of CYP2B6 c.419G>A (p.Arg140Gln), c.516G>T (p.Gln172His), c.785A>G (p.Lys262Arg), c.1172T>A (p.Ile391Asn), and c.1459C>T (p.Arg487Cys) were 0.58% (95% confidence interval 0.20-1.7%), 19.3% (16.1-22.9%), 23.8% (20.3-27.6%), 0.4% (0.11-1.39%), and 13.2% (10.6-16.4%), respectively. None of the subjects carried the CYP2B6 c.136A>G (p.Met46Val), c.296G>A (p.Gly99Glu), c.415A>G (p.Lys139Glu), or c.983T>C (p.Ile328Thr) SNVs. The variant alleles of CYP2B6 occur in Finnish population in similar or slightly lower frequencies as described in previous studies with other European Caucasian subjects.

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