Dorji Palden Wangyel, Wangchuk Sonam, Boonprasert Kanyarat, Tarasuk Mayuri, Na-Bangchang Kesara
Graduate Studies, Chulabhorn International College of Medicine, Thammasat University, Thailand; Faculty of Nursing and Public Health, Khesar Gyalpo University of Medical Sciences of Bhutan, Thimphu, Bhutan.
Royal Centre of Disease Control, Ministry of Health, Thimphu, Bhutan.
Drug Metab Pers Ther. 2019 Dec 18;34(4). doi: 10.1515/dmpt-2019-0020.
Background Marked differences among genotype frequencies (Caucasians, Asians, and Africans) have been observed in cytochrome P450 (CYP) genes. Data on the frequency of pharmacogenetic relevant polymorphisms in Bhutanese population is absent. This study aimed to investigate the frequencies of pharmacogenetic relevant polymorphisms of CYP2C9 (*2 and 3), CYP2C19 (2 and 3), CYP2D6 (10), and CYP3A5 (3) in Bhutanese population. Methods Genotyping was performed in 443 DNA samples using polymerase chain reaction-restriction fragment length polymorphism. Results For CYP2C9, allele frequencies of 2 and 3 variants were 0.339% and 0%, respectively. For CYP2C19, frequencies of 2 and 3 variants were 30.135% and 15.689%, respectively. Allele frequencies of CYP2D610 and CYP3A53 were 21.332% and 77.314%, respectively. Allele frequencies of CYP2C92 are similar to most Asians while CYP2C93 was absent. CYP2C192 showed a close resemblance to Japanese and Burmese, while CYP2C193 is near to Japanese and Korean. CYP2D610 is noticeably lower than other Asians. CYP3A53 is similar to East Asians (Chinese, Japanese, and Korean). Conclusions The Bhutanese population is polymorphic for these CYP genes, except for CYP2C93. Similar to other populations, genetic testing for these genes may, therefore, be helpful to obtain the benefit from pharmacological treatments and prevent adverse drug reactions.
细胞色素P450（CYP）基因在不同基因型频率（高加索人、亚洲人和非洲人）之间存在显著差异。不丹人群中药物遗传学相关多态性频率的数据尚缺。本研究旨在调查不丹人群中CYP2C9（2和3）、CYP2C19（2和3）、CYP2D6（10）和CYP3A5（3）药物遗传学相关多态性的频率。方法：采用聚合酶链反应-限制性片段长度多态性对443份DNA样本进行基因分型。结果：对于CYP2C9，2和3变异体的等位基因频率分别为0.339%和0%。对于CYP2C19，2和3变异体的频率分别为30.135%和15.689%。CYP2D610和CYP3A53的等位基因频率分别为21.332%和77.314%。CYP2C92的等位基因频率与大多数亚洲人相似，而CYP2C93不存在。CYP2C192与日本人和缅甸人相似，而CYP2C193接近日本人和韩国人。CYP2D610明显低于其他亚洲人。CYP3A53与东亚人（中国人、日本人和韩国人）相似。结论：不丹人群中这些CYP基因具有多态性，但CYP2C9*3除外。因此，与其他人群相似，对这些基因进行基因检测可能有助于从药物治疗中获益并预防药物不良反应。
