呼伦贝尔地区精神分裂症患者群体中药物基因组学相关位点的区域性特点

The regional features of polymorphisms of pharmacogenomic genes in patients with schizophrenia in HulunBuir

目的探讨呼伦贝尔地区精神分裂症患者群体中药物代谢、药物应答和药物毒性相关位点的多态性,为精神类疾病临床用药提供参考依据。方法利用核酸飞行时间质谱技术分析2019年4月~2019年8月采集的呼伦贝尔精神卫生中心的精神分裂症患者基因位点多态性,并与来自全国范围内的精神分裂症患者送检样本进行比较,分析相关位点基因型频率的区域性特点。结果本项目总共检测411例病人的21个基因,54个基因多态性位点,其中CYP2D6和HTR2C相关的位点在呼伦贝尔地区精神分裂症患者中不符合Hardy-Weinberg遗传平衡。在所有位点中,4个SNPs位点没有检测到多态性;21个SNP位点为罕见变异位点。与同时期全国范围内的精神分裂症患者比较,rs1800544、rs4792888、rs2069526、rs2279343、rs3745274、rs1799853、rs67666821、rs776746、rs1041983、rs7439366为呼伦贝尔地区精神分裂症患者显著差异的多态性位点。结论呼伦贝尔地区精神分裂症患者群体的药物代谢、应答、不良反应相关基因的多态性存在区域性特点,在临床实践中需要考虑其药物基因组学差异。

Objective To explore the polymorphism of drug metabolism,drug response and drug toxicity related sites in the population of schizophrenics in Hulunbuir area,and to provide a reference for the clinical use of psychiatric diseases. Methods DNA time-of-flight mass spectrometry was used to analyze the genetic polymorphisms of schizophrenia patients in Hulunbuir mental health center from April 2019 to August 2019,and compared with the samples of schizophrenia patients from all over the country,to analyze the regional characteristics of the genotype frequency of related loci. Methods The gene polymorphism of schizophrenia patients collected from April 2019 to August 2019 in Hulunbuir mental health center was analyzed by nucleic acid time-of-flight mass spectrometry,and compared with the samples sent by schizophrenia patients from all over the country,to analyze the regional characteristics of the gene frequency of related loci. Results In this project,21 genes and 54 gene polymorphisms were detected in 411 patients. Among them,CYP2 D6 and HTR2 C related loci did not conform to hardy Weinberg genetic balance in patients with schizophrenia in Hulunbeier area. In all loci,4 SNPs were not polymorphic and 21 SNPs were rare. Rs1800544,rs4792888,rs2069526,rs2279343,rs3745274,rs1799853,rs67666821,rs776746,rs1041983 and rs7439366 were the polymorphic loci of significant difference between the schizophrenics in Hulunbeier area and those in the same period in China. Conclusion There are regional characteristics of drug metabolism,response and gene polymorphism related to adverse reactions in the population of schizophrenics in Hulunbuir area,so it is necessary to consider the pharmacogenomic differences in clinical practice.