{"title":"津巴布韦黑人急性淋巴细胞白血病患者 6-巯基嘌呤的药物遗传学。","authors":"Pageneck Chikondowa, Derick Munkombwe, Zedias Chikwambi, Patience Kuona, Collen Masimirembwa","doi":"10.2217/pgs-2023-0026","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background:</b> 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. <b>Methods:</b> A total of 41 patients on acute lymphoblastic leukaemia treatment were genotyped for <i>TPMT</i> and <i>NUDT15</i> (rs116855232) alleles, and their association with dose intensity was analyzed. <b>Results:</b> The defective <i>TPMT*3C</i> allele frequency was 9.8%. The median maintenance dose intensity for <i>TPMT*1/*3C</i> participants was considerably lower (47%) when compared with the <i>TPMT*1/*1</i> wild-type (77%), although not statistically significant. <b>Conclusion:</b> This is the first pharmacogenetics study carried out in a black Zimbabwean leukemia patient cohort. The high defective <i>TPMT*3C</i> (9.8%) allele frequency points to the potential utility of pharmacogenetics testing for safe usage of 6-mercaptopurine in this population.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":"24 8","pages":"449-457"},"PeriodicalIF":1.9000,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10463210/pdf/","citationCount":"0","resultStr":"{\"title\":\"Pharmacogenetics of 6-mercaptopurine in a black Zimbabwean cohort treated for acute lymphoblastic leukaemia.\",\"authors\":\"Pageneck Chikondowa, Derick Munkombwe, Zedias Chikwambi, Patience Kuona, Collen Masimirembwa\",\"doi\":\"10.2217/pgs-2023-0026\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Background:</b> 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. <b>Methods:</b> A total of 41 patients on acute lymphoblastic leukaemia treatment were genotyped for <i>TPMT</i> and <i>NUDT15</i> (rs116855232) alleles, and their association with dose intensity was analyzed. <b>Results:</b> The defective <i>TPMT*3C</i> allele frequency was 9.8%. The median maintenance dose intensity for <i>TPMT*1/*3C</i> participants was considerably lower (47%) when compared with the <i>TPMT*1/*1</i> wild-type (77%), although not statistically significant. <b>Conclusion:</b> This is the first pharmacogenetics study carried out in a black Zimbabwean leukemia patient cohort. The high defective <i>TPMT*3C</i> (9.8%) allele frequency points to the potential utility of pharmacogenetics testing for safe usage of 6-mercaptopurine in this population.</p>\",\"PeriodicalId\":20018,\"journal\":{\"name\":\"Pharmacogenomics\",\"volume\":\"24 8\",\"pages\":\"449-457\"},\"PeriodicalIF\":1.9000,\"publicationDate\":\"2023-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10463210/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pharmacogenomics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2217/pgs-2023-0026\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/5/30 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"PHARMACOLOGY & PHARMACY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pharmacogenomics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2217/pgs-2023-0026","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/5/30 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"PHARMACOLOGY & PHARMACY","Score":null,"Total":0}
Pharmacogenetics of 6-mercaptopurine in a black Zimbabwean cohort treated for acute lymphoblastic leukaemia.
Background: 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. Methods: A total of 41 patients on acute lymphoblastic leukaemia treatment were genotyped for TPMT and NUDT15 (rs116855232) alleles, and their association with dose intensity was analyzed. Results: The defective TPMT*3C allele frequency was 9.8%. The median maintenance dose intensity for TPMT*1/*3C participants was considerably lower (47%) when compared with the TPMT*1/*1 wild-type (77%), although not statistically significant. Conclusion: This is the first pharmacogenetics study carried out in a black Zimbabwean leukemia patient cohort. The high defective TPMT*3C (9.8%) allele frequency points to the potential utility of pharmacogenetics testing for safe usage of 6-mercaptopurine in this population.
期刊介绍：
Pharmacogenomics (ISSN 1462-2416) is a peer-reviewed journal presenting reviews and reports by the researchers and decision-makers closely involved in this rapidly developing area. Key objectives are to provide the community with an essential resource for keeping abreast of the latest developments in all areas of this exciting field.
Pharmacogenomics is the leading source of commentary and analysis, bringing you the highest quality expert analyses from corporate and academic opinion leaders in the field.
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