约旦结直肠癌患者二氢吡啶脱氢酶基因的药物遗传学研究。
Pharmacogenetic Study of the Dihydropyridine Dehydrogenase Gene in Jordanian Patients with Colorectal Cancer.
机构信息
Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid, Jordan.
出版信息
Asian Pac J Cancer Prev. 2022 Sep 1;23(9):3061-3069. doi: 10.31557/APJCP.2022.23.9.3061.
INTRODUCTION
Several studies have shown an association between 5-fluorouracil toxicity and variations in the dihydropyrimidine dehydrogenase (DPYD) gene.
OBJECTIVES
This cross-sectional study aims to elucidate the association between genetic variations in the DPYD gene and 5-fluorouracil toxicity among Jordanians with colorectal cancer (CRC).
METHODS
80 CRC Patients were recruited to screen for mutations in the DPYD gene using the Sanger sequencing technique. Sequencing results were analyzed using Mutation Surveyor software, and mutational effects were predicted by the Mutation Tester bioinformatics tool.
RESULTS
Three reported variants (c.85T>C, c.1740+40A>G, c.1740+39C>T) and one novel (g.97515583_97515584insA) variant were identified in this study. Results showed a significant association between these variants and toxicity to 5-Fluorouracil with P-values 0.002, 0.005, 0.019, 0.017, respectively. However, there was no significant association between variants and cancer free survival.
CONCLUSION
The present study identified several variants in the DPYD gene among Jordanians with colorectal cancer, which are associated with toxicity to 5-Fluorouracil treatment.
简介
多项研究表明，5-氟尿嘧啶毒性与二氢嘧啶脱氢酶（DPYD）基因的变异有关。
目的
本横断面研究旨在阐明约旦结直肠癌（CRC）患者 DPYD 基因的遗传变异与 5-氟尿嘧啶毒性之间的关系。
方法
招募 80 名 CRC 患者，使用 Sanger 测序技术筛选 DPYD 基因的突变。使用 Mutation Surveyor 软件分析测序结果，并使用 Mutation Tester 生物信息学工具预测突变效应。
结果
本研究发现了三个报告的变异（c.85T>C、c.1740+40A>G、c.1740+39C>T）和一个新的变异（g.97515583_97515584insA）。结果表明，这些变异与 5-氟尿嘧啶的毒性之间存在显著关联，P 值分别为 0.002、0.005、0.019、0.017。然而，变异与无癌症生存之间没有显著关联。
结论
本研究在约旦结直肠癌患者中鉴定了 DPYD 基因中的几个变异，这些变异与 5-氟尿嘧啶治疗的毒性有关。
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