Department of Biology, School of Medicine, University of Athens, Athens, Greece.
J Clin Pharm Ther. 2010 Feb;35(1):93-7. doi: 10.1111/j.1365-2710.2009.01041.x.
Azathioprine (AZA) and 6-mercaptopurine (6MP) are used in the treatment of paediatric inflammatory bowel disease (IBD). Genetic variations in thiopurine S-methyltranfarase (TPMT) gene have been correlated with enzyme activity and with the occurrence of adverse events to AZA and 6MP. The aim of the present study was to investigate the frequency of the functional TPMT polymorphisms and their association with the occurrence of adverse events during azathioprine therapy in a paediatric IBD cohort.
Ninety-seven thiopurine-treated paediatric IBD patients (41.24% boys and 58.76% girls) with a mean age 11.25 years (range 3-16), were assessed for TPMT polymorphisms and adverse events.
Of the 97 patients enrolled in the study, 18 (18.56%) were heterozygous mutated; two (2.06%) were homozygous for a mutated TPMT gene. Ten patients (10.31%) developed adverse effects, and four of them (40%) had one of the variant alleles.
In this small cohort of subjects, no association was found between TPMT polymorphisms and the occurrence of thiopurines-related adverse events.
巯嘌呤甲基转移酶（TPMT）基因的功能突变与巯嘌呤类药物（AZA 和 6MP）的酶活性和不良反应的发生相关。本研究旨在探讨巯嘌呤治疗儿童炎症性肠病（IBD）时，TPMT 多态性与不良反应发生的相关性。
纳入 97 例巯嘌呤治疗的儿童 IBD 患者（41.24%为男性，58.76%为女性），平均年龄为 11.25 岁（3-16 岁），评估 TPMT 多态性与不良反应。
在研究的 97 例患者中，18 例（18.56%）为杂合突变；2 例（2.06%）为纯合突变。10 例（10.31%）出现不良反应，其中 4 例（40%）存在一个变异等位基因。
在这个小样本队列中，TPMT 多态性与巯嘌呤类药物相关不良反应的发生无关。
