Genetics Laboratory, Clinical Analysis Service, General Hospital Consortium of Valencia, Valencia.
Genetics Laboratory, Clinical Biochemistry Service, Miguel Servet University Hospital, Zaragoza.
Pharmacogenet Genomics. 2024 Jul 1;34(5):166-169. doi: 10.1097/FPC.0000000000000530. Epub 2024 Mar 18.
Consensus guidelines for genotype-guided fluoropyrimidine dosing based on variation in the dihydropyrimidine dehydrogenase (DPYD) gene before treatment have been firmly established. The prior pharmacogenetic report avoids the serious toxicity that inevitably occurred in a non-negligible percentage of the treated patients. The precise description of the allelic distribution of the variants of interest in our reference populations is information of great interest for the management of the prescription of these antineoplastic drugs. We characterized the allelic distribution of the UGT1A128 variant (rs3064744), as well as the DPYD2A (rs3918290) variant, c.1679T>G (rs55886062), c.2846A>T (rs67376798) and c.1129-5923C>G (rs75017182; HapB3) in series of 5251 patients who are going to receive treatment with irinotecan and fluoropyrimidines, representative of Valencian, Aragonese and Western Andalusian populations.
在治疗前基于二氢嘧啶脱氢酶（DPYD）基因变异的基因型指导氟嘧啶剂量的共识指南已经得到了确立。该先前的遗传药理学报告避免了在相当一部分接受治疗的患者中不可避免地发生的严重毒性。在我们的参考人群中，感兴趣的变异等位基因分布的精确描述是管理这些抗肿瘤药物处方的重要信息。我们对 UGT1A128 变异（rs3064744）以及 DPYD2A（rs3918290）变异 c.1679T>G（rs55886062）、c.2846A>T（rs67376798）和 c.1129-5923C>G（rs75017182；HapB3）的等位基因分布进行了研究，这些患者是将要接受伊立替康和氟嘧啶治疗的，代表了瓦伦西亚、阿拉贡和西部安达卢西亚地区的人群。
