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科索沃人群中CYP2C9、CYP2C19和CYP3A5的基因多态性

Genetic polymorphisms of CYP2C9, CYP2C19, and CYP3A5 in Kosovar population.

作者信息

Krasniqi Valon, Dimovski Aleksandar, Bytyqi Hasime Qorraj, Eftimov Aleksandar, Šimičević Livija, Božina Nada

机构信息

.

出版信息

Arh Hig Rada Toksikol. 2017 Sep 26;68(3):180-184. doi: 10.1515/aiht-2017-68-2998.

Abstract

Cytochrome P450 genetic polymorphisms are responsible for individual variations in drug metabolism and drug-drug interactions. They are very important for pharmacogenetics, and their frequency varies across different populations. There is a big gap in the knowledge about the CYP gene family polymorphisms in the population of Kosovo, and the aim of our study was to fill that gap by determining the frequency of the most important variant alleles of CYP2C9, CYP2C19, and CYP3A5 in 234 nonrelated Kosovars. The allele frequencies of CYP2C92 and 2C93 were 17.52 %, and 10.89 %, respectively. Sixteen participants (6.81 %) were CYP2C9 poor metabolisers. The CYP2C19*2 and *17 variant frequencies were 13.03 % and 19.01 %, respectively. There were 2.13 % CYP2C19 poor and 4.27 % ultra-rapid metabolisers (homozygous carriers of the *17 allele). With regard to CYP3A5, the frequency of the *3 variant allele was 98.29 % (non-expressors), while the remaining participants (1.70 %) were expressors of CYP3A5. These findings are comparable with other European ethnicities, specifically those of Southeast Europe.

摘要

细胞色素P450基因多态性是药物代谢个体差异和药物相互作用的原因。它们对药物遗传学非常重要,其频率在不同人群中有所不同。科索沃人群中关于CYP基因家族多态性的知识存在很大差距,我们研究的目的是通过确定234名无亲缘关系的科索沃人中CYP2C9、CYP2C19和CYP3A5最重要变异等位基因的频率来填补这一差距。CYP2C92和2C93的等位基因频率分别为17.52%和10.89%。16名参与者(6.81%)是CYP2C9慢代谢者。CYP2C192和17的变异频率分别为13.03%和19.01%。有2.13%的CYP2C19慢代谢者和4.27%的超快代谢者(*17等位基因的纯合携带者)。关于CYP3A5,*3变异等位基因的频率为98.29%(非表达者),而其余参与者(1.70%)是CYP3A5表达者。这些发现与其他欧洲种族相当,特别是东南欧的种族。

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