从表达QTLs到个体转录组的进展

From expression QTLs to personalized transcriptomics.

建立表达数量性状位点(eQTLs)与全基因组关联研究(GWAS)相结合的方法,可以为人类复杂疾病的病因学和复杂性状研究提供进一步的功能信息。在探索疾病的转录组,细胞的生长动态过程,人群的起源和多样化拟表型方面,这一方法,也为人们提供了一种较好的,有助于理解疾病发生机制和人类基因调控格局的研究手段。本综述将介绍在基因组时代eQTLs的应用及其意义。

Approaches that combine expression quantitative trait loci （eQTLs）and genome-wide association （GWA） studies are of- feting further functional information about the aetiology of complex human diseases and complex traits. These approaches-which take into account technological advances in resolving the transcriptome, cell history and state, population of origin and diverse endophenotypes-are providing better reach teqchniques to help us understand the architecture of disease and the landscape of gene regulation in humans. This review will introduce the application and significance of eQTLs on genome era.