74例难治性抑郁症患者代谢基因表型多态性研究

Polymorphisms analysis of the metabolic genes in 74 patients with treatment-resistant depression

目的分析难治性抑郁症(treatment-resistant depression,TRD)患者抗抑郁药代谢基因表型多态性的特点,为临床治疗提供参考。方法收集2018年9月—2020年5月在徐州市东方人民医院就诊的TRD患者的诊疗信息和药物基因组学检测结果。对涉及抗抑郁药代谢的CYP1A2(*1,*1C,*1F,*6)、CYP2C19(*1,*10,*17,*2,*3,*35,*4)、CYP2C9(*1,*2,*3)、CYP2D6(*1,*10,*14A,*14B,*2,*2A,*4,*41)和CYP3A4(*1,*20,*26)的基因表型多态性进行分析。结果 91.89%的TRD患者存在1个以上的代谢基因表型突变,集中在CYP2C19(59.46%)和CYP2D6(64.86%),以慢代谢型频率最多。8.11%的TRD患者未发现突变。结论 TRD患者代谢基因表型突变率较高,主要集中在CYP2C19和CYP2D6,以慢代谢型频率最多。

Objective To analyze the polymorphism of antidepressant-associated metabolic phenotypes in patients with treatment-resistant depression(TRD),so as to provide reference for clinical treatment.Methods TRD patients who were admitted in Xuzhou Oriental People’s Hospital from September 2018 to May 2020 were enrolled and their diagnosis and treatment information and pharmacogenomics test results were examined.The following gene polymorphism was analyzed,including CYP1A2(*1,*1 C,*1 F,*6),CYP2C19(*1,*10,*17,*2,*3,*35,*4),CYP2C9(*1,*2,*3),CYP2D6(*1,*10,*14 A,*14 B,*2,*2 A,*4,*41)and CYP3A4(*1,*20,*26).Results 91.89% of TRD patients presented more than one mutant metabolic phenotypes,especially in CYP2C19(59.46%)and CYP2D6(64.86%),with the most frequent frequency of poor metabolizers.No mutation was found in 8.11%of TRD patients.Conclusions TRD patients have a high mutant rate of metabolic phenotype,expecially in CYP2C19 and CYP2D6,with the most frequent frequency of poor metabolizers.But we must be alert to the possibility of false treatment-resistance.