CYP2C19基因多态性对奥美拉唑治疗儿童幽门螺旋杆菌疗效的影响

目的：探索儿童CYP2C19的基因分布，以及基因多态性对奥美拉唑治疗儿童幽门螺旋杆菌疗效的影响。方法：收集本院消化科住院治疗的111例幽门螺旋杆菌阳性患儿血样，采用数字荧光杂交测定CYP2C19的基因型，根据结果分为4种代谢类型：超快代谢型（UM）、快代谢型（EM）、中间代谢性（IM）以及慢代谢型（PM），统计不同基因型、代谢型分布频率。常规奥美拉唑剂量下[0.6~1 mg·（kg·d）^-1（最大量40 mg·d^-1）]，比较不同代谢型患儿幽门螺旋杆菌根除率。快代谢组患儿，比较奥美拉唑常规剂量组和高剂量组[1.2~2 mg·（kg·d）^-1（最大量80 mg·d^-1）]的根除率。结果：CYP2C19*1、CYP2C19*2、CYP2C19*3和CYP2C19*17等位基因频率分别为67.12%，24.77%，6.76%和1.35%。UM型、EM型、IM型以及PM型代谢组分布频率分别为0.9%，50.45%，34.23%，14.41%。常规奥美拉唑剂量下，EM组根除率（53.57%）显著低于IM（78.95%）及PM组（87.5%）。快代谢组患儿，高剂量组根除率（82.14%）显著高于常规剂量组（53.57%）。结论：剂量相同的条件下，EM组的根除率更低，但增加剂量可以提高EM组的根除率，这可用于指导临床个体化用药。通过基因检测，可以选择更合适的药物剂量。

Effect of CYP2C19 gene polymorphism on the efficacy of omeprazole in the treatment of Helicobacter pylori in children

OBJECTIVE To explore the gene distribution of CYP2C19 in children and examine the effect of gene polymorphism on the efficacy of omeprazole in the treatment of Helicobacter pylori(Hp)in children.METHODS Blood samples of 111 Hp-positive children were collected and their CYP2C19 genotypes determined by digital fluorescent hybridization.According to the results,they were divided into four metabolic types of ultra extensive metabolizer(UM),extensive metabolizer(EM),intermediate metabolizer(IM)and poor metabolizer(PM).The distribution frequencies of different genotypes and metabolic types were counted.The eradication rates of Hp in children with different metabolic types were compared under the normal dosage of omeprazole[0.6^-1 mg·(kg·d)^-1(maximum 40 mg·d^-1)].In extensive metabolism group,the eradication rates were compared between normal and high dose groups[1.2-2 mg·(kg·d)^-1(maximum 80 mg·d^-1)].RESULTS The alleleic frequencies of CYP2C19*1,CYP2C19*2,CYP2C19*3 and CYP2C19*17 were 67.12%,24.77%,6.76%and 1.35%;The distribution frequency of UM,EM,IM and PM types 0.9%,50.45%,34.23%and 14.41%respectively.The eradication rate of EM group(53.57%)was significantly lower than that of IM group(78.95%)and PM group(87.5%).The eradication rate of high dose group(82.14%)was significantly higher than that of normal dose group(53.57%).CONCLUSION Under the same dose,the eradication rate of EM group is lower.However,a higher dose improves the eradication rate of EM group.It can be used to guide clinical individualized medication.Through gene test,clinicians may select a more rational drug dose.