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Genetic polymorphisms of cytochrome P450 enzymes: CYP2C9, CYP2C19, CYP2D6, CYP3A4, and CYP3A5 in the Croatian population (CROSBI ID 257906)

Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija

Ganoci, Lana ; Božina, Tamara ; Mirošević Skvrce, Nikica ; Lovrić, Mila ; Mas, Petar ; Božina, Nada Genetic polymorphisms of cytochrome P450 enzymes: CYP2C9, CYP2C19, CYP2D6, CYP3A4, and CYP3A5 in the Croatian population // Drug metabolism and personalized therapy, 32 (2017), 1; 11-21. doi: 10.1515/dmpt-2016-0024

Podaci o odgovornosti

Ganoci, Lana ; Božina, Tamara ; Mirošević Skvrce, Nikica ; Lovrić, Mila ; Mas, Petar ; Božina, Nada

engleski

Genetic polymorphisms of cytochrome P450 enzymes: CYP2C9, CYP2C19, CYP2D6, CYP3A4, and CYP3A5 in the Croatian population

BACKGROUND: Data on the frequency of pharmacogenetic polymorphisms in the Croatian population are limited. We determined and analyzed frequencies for the most important CYP2C9, CYP2C19, CYP2D6, CYP3A4, and CYP3A5 genetic variants in the Croatian population. METHODS: 2637 subjects were included. Genotyping was performed by real-time polymerase chain reaction (PCR) using TaqMan® DME or TaqMan® SNP Genotyping Assays, and by PCR, and PCR-RFLP analysis. RESULTS: For CYP2C9, allele frequencies of *2 and *3 variant were 14.5% and 7.6%, respectively. Among them, 3.98% of subjects were predicted to be poor metabolizers. For CYP2C19, the most frequent variant alleles were *2 (14.8%), and *17 (23.7%), while 2.4% of subjects were predicted to be poor metabolizers, and 5.39% were homozygous carriers of *17 predicted to be ultrarapid metabolizers (UM). For CYP2D6, the frequencies of tested variant alleles were *3 (2.2%), *4 (17.4%), *5 (1%), *6 (1.1%), and *41 (10.8%). Out of these, 5.59% were predicted to be poor metabolizers, 3.19% were classified as UM while 1.0% were carriers of variant alleles duplications (undefined phenotype). For CYP3A4 allele frequencies of *1B and *22 variants were 1.4% and 2.7%, respectively. Allele frequency of CYP3A5*3 was 95.5%. Analyzing CYP3A cluster according to the combination of CYP3A4*22 and CYP3A5*3 revealed 5.34% of subjects to be poor metabolizers, while 8.66% were classified as extensive metabolizers. CONCLUSIONS: The frequency of the CYP allelic variants, genotypes, and predicted phenotypes in the Croatian population is in accordance with the other European populations, between the values of published data for Middle European and Mediterranean populations.

Croatian population ; CYP2C9 ; CYP2C19 ; CYP2D6 ; CYP3A4 ; CYP3A5 ; cytochrome P450 (CYP) ; pharmacogenetics ; polymorphisms

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Podaci o izdanju

32 (1)

2017.

11-21

objavljeno

2363-8907

10.1515/dmpt-2016-0024

Povezanost rada

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