中国西北地区汉族先天性耳聋患儿镇痛与肌肉松弛相关基因多态性观察

Observation on related gene polymorphisms of analgesia and muscle relaxation in children with congenital deafness of Han nationality in northwest China

目的探讨中国西北地区先天性耳聋患儿和普通患儿CYP3A4*1G(25343C>T)、OPRM1(118A>G)、ABCB1(3435T>C)和ABCB1(1236T>C)、SLCO1B1(388A>G)的基因型分类,明确其与镇痛和肌肉松弛(以下简称肌松)相关的基因突变。方法选择空军军医大学西京医院2019年9月至2021年10月中国西北地区(陕西、甘肃、宁夏、青海、新疆)的0-6岁汉族先天性耳聋患儿和普通患儿各102例,对其CYP3A4*1G(25343C>T)、OPRM1(118A>G)、ABCB1(3435T>C)和ABCB1(1236T>C)、SLCO1B1(388A>G)基因多态性检测结果进行回顾。结果两组患儿阿片类相关基因CYP3A4*1G(25343C>T)、OPRM1(118A>G)、ABCB1(3435T>C)分型差异无统计学意义(P>0.05),罗库溴铵相关基因ABCB1(1236T>C)、SLCO1B1(388A>G)分型差异有统计学意义(P<0.05)。结论同普通患儿相比,先天性耳聋患儿阿片类相关基因CYP3A4*1G(25343C>T)、OPRM1(118A>G)、ABCB1(3435T>C)变异相当,罗库溴铵相关基因ABCB1(1236T>C)、SLCO1B1(388A>G)变异率较高,该类人群使用罗库溴铵全身麻醉维持时可能需适当减少剂量。

Objective To retrospectively analyze the genotypes of CYP3A4*1G(25343C>T),OPRM1(118A>G),ABCB1(3435T>C),ABCB1(1236T>C)and SLCO1B1(388A>G)in congenital deafness children and general children in Northwest China,and identify the gene mutations associated with analgesia and muscle relaxation.Methods A total of 102 children with congenital deafness and 102 general children aged from 0 to 6 years old were recruited in Xijing Hospital from September 2019 to October 2021 in northwest China(Shaanxi,Gansu,Ningxia,Qinghai,Xinjiang).The CYP3A4*1G(25343C>T),OPRM1(118A>G),ABCB1(3435T>C),ABCB1(1236T>C)and SLCO1B1(388A>G)gene polymorphism detection resultswere reviewed.Results There was no difference in the genotyping of opioid related genes CYP3A4*1G(25343C>T),OPRM1(118A>G)and ABCB1(3435T>C)between the two groups(P>0.05),but there was significant difference in rocuronium related genes ABCB1(1236T>C)and SLCO1B1(388A>G)(P<0.05).Conclusion Compared with general children,the mutations of opioid related genes CYP3A4*1G(25343C>T),OPRM1(118A>G)andABCB1(3435T>C)are similar in congenital deafness children,while the mutation rates of rocuronium related genes ABCB1(1236T>C)and SLCO1B1(388A>G)are higher in congenital deafness children.Rocuronium may need to be reduced when general anesthesia is maintained in this population.