SCREENING FOR CYP2C19*2, *3 AND *4 GENE
VARIANTS IN A ROMANIAN POPULATION
STUDY GROUP.
ANCA D. BUZOIANU1, ADRIAN P. TRIFA2*, RADU A. POPP2,
MARIELA S.MILITARU2, CLAUDIA F. MILITARU1, CORINA I.
BOCŞAN1, MARIUS F. FARCAŞ2, IOAN V.POP2
University of Medicine and Pharmacy, Cluj-Napoca, Romania
1Department of Clinical Pharmacology, “Iuliu Hatieganu”
2Department of Medical Genetics, “Iuliu Hatieganu”
*corresponding author: adi_trifa@yahoo.co.uk
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Abstract:

CYP2C19, a member of the cytochrome P450 enzymes family, metabolizes a range of clinically significant drugs. Its homologous gene has been shown to be polymorphic; two major alleles, CYP2C19*2 and *3 and several other less frequent, among which the allele *4, are responsible for the poor metabolizer (PM) phenotype. Based on Polymerase Chain Reaction- restriction Fragment Lengh Polymorphism (PCR-RFLP) and tetra-primer PCR techniques, CYP2C19*2, *3 and *4 variants were studied in 200 healthy, unrelated Romanian volunteers. 48 individuals (24%) were CYP2C19*2 heterozygotes, while a homozygous genotype CYP2C19*2/*2, has been demonstrated in 3 individuals (1.5%). No CYP2C19*3 variant has been found in this study. CYP2C19*4 was found only in a CYP2C19*2/*4 compound heterozygous individual. The allele frequencies for CYP2C19*2, *3 and *4 were 13.75%, 0% and 0.25%, respectively. Overall, the distribution of the CYP2C19 alleles in thr population studied matches data from reports on other Caucasian populations. Our study can represent the basis of establishing the best CYP2C19 genotyping protocol in individuals who are prescribed CYP2C19 substrates in Romania.

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