交叉表型荟萃分析揭示大规模trans-eQTLs介导的转录共调控模式
Cross-phenotype meta-analysis reveals large-scale trans-eQTLs mediating patterns of transcriptional co-regulation
摘要：
影响基因调控的遗传变异是个体间表型差异的主要驱动力，可用于揭示细胞中生物过程的组织方式。虽然检测顺式eQTL现在是常规的，但反式eQTL已被证明更具挑战性，因为解释的适度方差和测试数百万个SNP与数千个转录本关联的多重测试负担。在这里，我们成功地定位trans-eQTL与互补的方法，寻找SNPs相关的多个基因的表达同时进行。我们发现732个trans-eQTL在两个大陆群体中复制;每个trans-eQTL控制大量的靶转录物（调节子），这些转录物是由转录因子控制的相互作用网络的一部分。因此，我们能够发现共同调控的基因集，并开始描述基因调控的细胞回路。
英文摘要：
Genetic variation affecting gene regulation is a central driver of phenotypic differences between individuals and can be used to uncover how biological processes are organized in a cell. Although detecting cis-eQTLs is now routine, trans-eQTLs have proven more challenging to find due to the modest variance explained and the multiple tests burden of testing millions of SNPs for association to thousands of transcripts. Here, we successfully map trans-eQTLs with the complementary approach of looking for SNPs associated to the expression of multiple genes simultaneously. We find 732 trans- eQTLs that replicate across two continental populations; each trans-eQTL controls large groups of target transcripts (regulons), which are part of interacting networks controlled by transcription factors. We are thus able to uncover co-regulated gene sets and begin describing the cell circuitry of gene regulation.
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