Genetic polymorphism of CYP2C19, CYP2C9 and VKORC1 in Kosovo population [Genetički polimiorfizam CYP2C19, CYP2C9 i VKORC1 u kosovskoj populaciji]

Background: For the first time, we determined and analyzed frequency of the most important variant alleles of CYP2C9, CYP2C19, CYP3A5 and VKORC1 in Kosovo‟s population. Methods: Determination of genetic polymorphism was conducted in 234 nonrelated Kosovars and genotyping was conducted by Real-Time PCR. Results: Allele frequencies of CYP 2C9*2 and 2C9*3 were 17,52% and 10.89% respectively. 16 subjects (6.81%) were anticipated to be poor metabolizers. For CYP2C19, *2 and *17 variant frequencies were 2C19*2=13.03% and 2C19*17=19.01%. CYP2C19 poor metabolizers were predicted to be 2.13%, while 10 subjects (4.27%) were homozygous carriers of *17 allele and were predicted to be UM. For CYP3A5, prevalence of *3 variant allele in Kosovo population was 98.29 % (non-expressors). In relation to VKORC1, 33,3% of subjects of this study were found as homozygous (CC), 51,7% were heterozygous CT and 14.95% were homozygous for T allele. Discussion: For CYP2C9 and CYP2C19, frequency of variant alleles is in accordance with respective data in Caucasians especially with data of Croats, Macedonians, Greeks and French people. For CYP3A5*3, its frequency was in accordance with Croats and Tuscans (Italy) but is different compared to data obtained from other Caucasians. Data on VKORC1 (1173C>T) correspond to the relevant genotypes of the Balkan populations such as Croats, but differ from other European countries such as Italy. Conclusion: Findings of this study showed high accordance of variant alleles, genotypes and predicted phenotypes of Kosovars with that of other Caucasians, specifically with South Eastern European populations