呼伦贝尔地区精神分裂症人群中药物基因组相关位点的多态性调查

Analysis on polymorphisms of pharmacogenomic genes in patients with schizophrenia in HulunBuir region

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DOI
刊名
Journal of International Psychiatry
年,卷(期) 2020, 47(6)
作者
作者单位

呼伦贝尔市精神卫生中心 ;
上海康黎医学检验所有限公司 ;

摘要
探讨呼伦贝尔地区精神分裂症患者人群中药物代谢、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月采集的呼伦贝尔地区精神分裂症患者的基因位点多态性,并与全国基准频率作比较。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,rs28399499、rs28371706、rs35742686没有检测到多态性;rs2235040、rs4792888、rs12720461、rs56276455、rs3211371、rs8192709、rs12248560、rs1799853、rs28371725、rs3892097、rs5030655、rs5030862、rs5030865、rs5030867、rs774671100、rs67666821、rs1414334、rs6318、rs1208、rs1799929、rs1801280为罕见变异位点。与同时期中国人群的基因型频率比较显示,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。
Abstract
Objective to analyze genetic polymorphisms of pharmacogenetic genes in patients with schizophrenia in HulunBuir region in order to support more reasonable drug selection in clinical practice. Methods MALDI-TOF mass spectrometry was used to detect the genotypes of 54 single nucleotide polymorphisms (SNPs) loci on 21 different genes of 411 patients with schizophrenia in HulunBuir region. The results were compared with distribution of genotypes in other regions of China during the same period. Results SNPs on CYP2D6 and HTR2C didn’t meet the Hardy-Weinberg equilibrium. No polymorphism of rs28399499, rs28371706, rs35742686 were found in the patients. rs2235040, rs4792888, rs12720461, rs56276455, rs3211371, rs8192709, rs12248560, rs1799853, rs28371725, rs3892097, rs5030655, rs5030862, rs5030865, rs5030867, rs774671100, rs67666821, rs1414334, rs6318, rs1208, rs1799929 and rs1801280 were rare variants with minor allele frequencies less than 5%. There was significant difference in the distribution of genotypes of rs1800544, rs4792888, rs2069526, rs2279343, rs3745274, rs1799853, rs67666821, rs776746, rs1041983 and rs7439366 between patients in HulunBuir region and other regions in China.
关键词
精神分裂症;药物代谢;药物应答;药物毒性;基因多态性
KeyWord
schizophrenia; Drug metabolism; Response; adverse drug effect; genetic polymorphism
基金项目
页码 1124-1128
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张雄,姜蕊琪,刘鹏,祁冬冬*,顾孝平. 呼伦贝尔地区精神分裂症人群中药物基因组相关位点的多态性调查 [J]. 国际精神病学杂志. 2020; 47; (6). 1124 - 1128.

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