陈长仁, 何发忠, 刘谋泽, 周宏灏, 张伟. 表达数量性状位点分析在药物基因组学中的应用J. 药学学报, 2017,52(8): 1203-1208. doi: 10.16438/j.0513-4870.2017-0037
引用本文: 陈长仁, 何发忠, 刘谋泽, 周宏灏, 张伟. 表达数量性状位点分析在药物基因组学中的应用J. 药学学报, 2017,52(8): 1203-1208. doi: 10.16438/j.0513-4870.2017-0037
CHEN Zhang-ren, HE Fa-zhong, LIU Mou-ze, ZHOU Hong-hao, ZHANG Wei. Application of expression quantitative trait loci analysis in pharmacogenomicsJ. Acta Pharmaceutica Sinica, 2017,52(8): 1203-1208. doi: 10.16438/j.0513-4870.2017-0037
Citation: CHEN Zhang-ren, HE Fa-zhong, LIU Mou-ze, ZHOU Hong-hao, ZHANG Wei. Application of expression quantitative trait loci analysis in pharmacogenomicsJ. Acta Pharmaceutica Sinica, 2017,52(8): 1203-1208. doi: 10.16438/j.0513-4870.2017-0037

表达数量性状位点分析在药物基因组学中的应用

Application of expression quantitative trait loci analysis in pharmacogenomics

  • 摘要: 在全基因组关联分析(GWAS)时代发现的大量药物应答相关位点位于非编码序列,对其机制解释多关注于这些位点对mRNA表达水平的影响。表达数量性状位点(expression quantitative trait loci,eQTL)分析研究mRNA水平与基因组关联,其对遗传变异与基因表达关系、基因间相互作用和基因调控网络等的阐明为药物基因组学提供了有效研究手段。在药物基因组学中结合GWAS研究与eQTL研究,能够更好地阐明基因多态性对药物应答的影响,发现更多与药物疗效及毒性相关的生物标志物,为临床个体化用药的开展提供依据。

     

    Abstract: In the era of genome-wide association study (GWAS), a large number of drug response-related loci have been identified in the non-coding sequences. The interpretation of these loci in mechanism is concerned with the effects on the mRNA expression level of these genes. Expression quantitative trait loci (eQTL) studies indicate the relationship of genome variants and the level of mRNA. Its elucidation of the relationship between genetic variation and gene expression, gene interaction and gene regulatory network provides an efficacious mean for pharmacogenomics. The effects of gene polymorphism on drug responses have been unraveled thoroughly in studies which combined pharmacogenomics with eQTL and GWAS.

     

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