Ramalingam Ravi, Kaur Harpreet, Scott Julius Xavier, Sneha Latha M, Arun Kumar Ganesh Prasad, Srinivasan Arathi, Paul Solomon Fd
Department of Human Genetics, Sri Ramachandra Institute of Higher Education & Research, Chennai, India.
Department of Pediatric Oncology, Sri Ramachandra Institute of Higher Education & Research, Chennai, India.
Pharmacogenomics. 2021 May;22(7):401-411. doi: 10.2217/pgs-2020-0193. Epub 2021 Apr 20.
To evaluate the variants in the genes coding for the proteins involved in thiopurine and folate metabolism with treatment related adverse effects (TRAEs). Eleven variants in seven candidate genes were genotyped in 127 pediatric acute lymphoblastic leukemia patients under 6-mercaptopurine (6-MP) treatment to infer the association of selected genotypes with TRAEs. Among the genotypes inspected, (c.415C>T) and (c.80G>A) showed a significant association with the TRAEs (odds ratio = 4.01, p = 0.002 and odds ratio = 7.78, p = 0.002). and play an important role in the metabolism of 6-MP and it is necessary to spot other variants in associated pathways and investigate the factors that can impact 6-MP metabolism.
为评估参与硫嘌呤和叶酸代谢的蛋白质编码基因中的变异与治疗相关不良反应（TRAEs）之间的关系。对127例接受6-巯基嘌呤（6-MP）治疗的小儿急性淋巴细胞白血病患者的7个候选基因中的11个变异进行基因分型，以推断所选基因型与TRAEs的关联。在所检测的基因型中，（c.415C>T）和（c.80G>A）与TRAEs显示出显著关联（优势比=4.01，p=0.002；优势比=7.78，p=0.002）。 和 在6-MP的代谢中起重要作用，有必要在相关途径中发现其他变异，并研究可能影响6-MP代谢的因素。
