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目的研究尿苷二磷酸葡萄糖醛酸转移酶(UGT1A1)基因启动子区多态性与伊立替康化疗不良反应之间的关系。方法选取本院以伊立替康为基础的化疗方案的恶性肿瘤患者212例,观察记录化疗期间患者出现不良反应(中性粒细胞减少和迟发性腹泻)的情况,并抽取外周血检测 UGT1 A1基因启动子区的多态性,统计分析 UGT1 A1基因启动子区多态性与伊立替康化疗期间不良反应的关系。结果212例患者中,181例(85.4%)基因型为 UGT1A1(6/6),31例(14.6%)基因型为 UGT1A1(6/7),未检测到 UGT1A1(7/7)基因型。以上两组患者发生Ⅲ~Ⅳ级中性粒细胞减少者分别为24例(13.3%)和6例(19.4%),两者相比较差异无显著性(P=0.368),发生Ⅲ度和Ⅳ度腹泻者分别为19例(10.5%)和9例(29%),两者相比较差异有显著性(P =0.005)。结论与 UGT1A1(6/6)基因型相比,UGT1A1(6/7)基因型可明显增加恶性肿瘤患者在伊立替康化疗时发生Ⅲ~Ⅳ度腹泻的风险,但不会增加患者Ⅲ~Ⅳ级中性粒细胞减少的风险。临床检测 UGT1 A1基因启动子区多态性可以预测伊立替康化疗不良反应的发生。“,”Obj ective]To investigate the relationship between uridine diphosphoglucuronic acid transferase (UGT1 A1 )gene promoter polymorphism and adverse events of irinotecan-based chemotherapy.[Methods]Totally 2 1 2 patients with malignant tumor receiving irinotecan-based chemotherapy regimen in our hospital were chosen.Adverse e-vents(neutropenia and late-onset diarrhea)during chemotherapy were recorded.Peripheral blood was extracted to examine UGT1 A1 gene promoter polymorphism,and its relationship with adverse events during irinotecan-based chemotherapy was analyzed.[Results]Of 212 patients,181 patients(85.4%)were UGT1A1(6/6)genotype,and 31 patients(14.6%) were UGT1A1(6/7)genotype,and no UGT1A1(7/7)genotype was found.In above two groups,gradeⅢandⅣ neu-tropenia occurred in 24 patients(13.3%)and 6 patients(19.4%)respectively,but there was no significant difference be-tween them(P=0.368).More than gradeⅢdiarrhea occurred in 19 patients(10.5%)and 9 patients(29%)respectively in two groups,and there was significant difference between them(P=0.005).[Conclusion]Compared with UGT1A1 (6/6)genotype,UGT1A1(6/7)genotype can obviously increase the risk of the occurrence of gradeⅢandⅣdiarrhea in patients with malignant tumor during irinotecan-based chemotherapy,but not increase the risk of the occurrence of gradeⅢandⅣ neutropenia of patients.Clinical detection of UGT1 A1 gene promoter polymorphism can predict the occurrence of adverse events of irinotecan-based chemotherapy.