津巴布韦黑人队列中 6-巯基嘌呤治疗急性淋巴细胞白血病的药物遗传学研究。
Pharmacogenetics of 6-mercaptopurine in a black Zimbabwean cohort treated for acute lymphoblastic leukaemia.
机构信息
Department of Genomic Medicine, African Institute of Biomedical Science & Technology (AiBST), Harare, Zimbabwe.
Department of Biotechnology, School of Health Science & Technology, Chinhoyi University of Technology, Chinhoyi, Zimbabwe.
出版信息
Pharmacogenomics. 2023 Jun;24(8):449-457. doi: 10.2217/pgs-2023-0026. Epub 2023 May 30.
6-mercaptopurine usage is associated with myelotoxicity and increased risk in patients carrying metabolism-related genetic variations. This study aimed to determine the frequency of candidate gene polymorphisms and their association with 6-mercaptopurine intolerance. A total of 41 patients on acute lymphoblastic leukaemia treatment were genotyped for and (rs116855232) alleles, and their association with dose intensity was analyzed. The defective allele frequency was 9.8%. The median maintenance dose intensity for participants was considerably lower (47%) when compared with the wild-type (77%), although not statistically significant. This is the first pharmacogenetics study carried out in a black Zimbabwean leukemia patient cohort. The high defective (9.8%) allele frequency points to the potential utility of pharmacogenetics testing for safe usage of 6-mercaptopurine in this population.
巯嘌呤的使用与骨髓毒性和携带代谢相关基因变异的患者的风险增加有关。本研究旨在确定候选基因多态性的频率及其与巯嘌呤不耐受的关系。对 41 例急性淋巴细胞白血病患者进行了 和 (rs116855232) 等位基因的基因分型，并分析了它们与剂量强度的关系。缺陷型 等位基因频率为 9.8%。与野生型（77%）相比， 参与者的维持剂量强度中位数明显较低（47%），尽管无统计学意义。这是在津巴布韦黑人白血病患者队列中进行的第一项药物遗传学研究。高缺陷型 (9.8%) 等位基因频率表明，在该人群中，药物遗传学检测对于巯嘌呤的安全使用具有潜在的应用价值。
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