Identification of context-dependent expression quantitative trait loci in whole blood
Identification of context-dependent expression quantitative trait loci in whole blood
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DOI：
10.1038/ng.3737
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发表时间：
2017-01-01
期刊：
影响因子：
30.8
通讯作者：
Franke, Lude
中科院分区：
文献类型：
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作者：
Zhernakova, Dania V.;Deelen, Patrick;Franke, Lude
遗传风险因素通常定位于基因组的非编码区，对疾病病因学的影响未知1，2。表达数量性状基因座（eQTL）有助于解释这些遗传关联背后的调控机制（3-6）。对决定eQTL性质和强度的背景的了解可能有助于鉴定与病理生理学相关的细胞类型和疾病基础的调控网络（7-17）。在这里，我们从2，116个无关个体中生成了外周血RNA-seq数据，并使用不需要事先了解修饰物身份的无假设策略系统地鉴定了上下文依赖性eQTL。在23，060个重要的顺式调节基因（错误发现率（FDR））中，
Genetic risk factors often localize to noncoding regions of the genome with unknown effects on disease etiology1,2. Expression quantitative trait loci (eQTLs) help to explain the regulatory mechanisms underlying these genetic associations(3-6). Knowledge of the context that determines the nature and strength of eQTLs may help identify cell types relevant to pathophysiology and the regulatory networks underlying disease(7-17). Here we generated peripheral blood RNA-seq data from 2,116 unrelated individuals and systematically identified context-dependent eQTLs using a hypothesis-free strategy that does not require previous knowledge of the identity of the modifiers. Of the 23,060 significant cis-regulated genes (false discovery rate (FDR)