巴基斯坦人群中主要 CYP2B6 多态性的等位基因和基因型频率。
Allelic and genotype frequencies of major CYP2B6 polymorphisms in the Pakistani population.
机构信息
Department of Basic Medical Sciences, Shifa College of Pharmaceutical Sciences, Shifa Tameer-e-Millat University, Islamabad, Pakistan.
Dow International Medical College, Dow University of Health Sciences, Karachi, Pakistan.
出版信息
Mol Genet Genomic Med. 2021 Mar;9(3):e1527. doi: 10.1002/mgg3.1527. Epub 2021 Feb 18.
BACKGROUND
Cytochrome P450 (CYP2B6) is an important enzyme that metabolizes about 3.0% of therapeutic drugs. Drugs metabolized mainly by CYP2B6 include artemisinin, bupropion, cyclophosphamide, efavirenz, ketamine, and methadone. The genetic polymorphisms in the CYP2B6 gene have earlier been studied in many populations, but the data are lacking for the Pakistani population. This research study aimed to determine the frequencies of the three of the most important variant alleles and genotypes of the CYP2B6 gene in the Pakistani population.
METHODS
Blood was withdrawn from healthy volunteers after taking informed consent. DNA was extracted using commercial kits, and allelic and genotype frequencies were determined after PCR amplification followed by restriction fragment length polymorphism (RFLP) and gel electrophoresis.
RESULTS
Our results show a minor allele frequency of 33.8% for CYP2B66, 25.8% for CYP2B64, 6.5% for CYP2B63, whereas wild-type genotype frequency was 48.57% for CYP2B66, 59.79% for CYP2B64, and 90.20% for CYP2B63. A significant interethnic variation was also observed.
CONCLUSIONS
Our results suggest that the frequency of poor metabolizers of CYP2B6, especially *6 variant, is significant enough in the Pakistani population to be given an important consideration when drugs metabolized by this enzyme are prescribed.
背景
细胞色素 P450（CYP2B6）是一种重要的酶，可代谢约 3.0%的治疗性药物。主要由 CYP2B6 代谢的药物包括青蒿素、安非他酮、环磷酰胺、依非韦伦、氯胺酮和美沙酮。CYP2B6 基因中的遗传多态性已在许多人群中进行了早期研究，但缺乏巴基斯坦人群的数据。本研究旨在确定巴基斯坦人群中三种最重要的 CYP2B6 基因变异等位基因和基因型的频率。
方法
在获得知情同意后，从健康志愿者中抽取血液。使用商业试剂盒提取 DNA，通过 PCR 扩增后进行限制性片段长度多态性（RFLP）和凝胶电泳确定等位基因和基因型频率。
结果
我们的结果显示 CYP2B66 的次要等位基因频率为 33.8%，CYP2B64 为 25.8%，CYP2B63 为 6.5%，而 CYP2B66 的野生型基因型频率为 48.57%，CYP2B64 为 59.79%，CYP2B63 为 90.20%。还观察到明显的种族间变异。
结论
我们的结果表明，CYP2B6 代谢不良的个体（尤其是*6 变异型）在巴基斯坦人群中的频率足够高，在开处方时应考虑到这种酶代谢的药物。
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