文章基本信息

标题：Exploring regulation in tissues with eQTL networks
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作者：Maud Fagny ; Joseph N. Paulson ; Marieke L. Kuijjer 等
期刊名称：Proceedings of the National Academy of Sciences
印刷版ISSN：0027-8424
电子版ISSN：1091-6490
出版年度：2017
卷号：114
期号：37
页码：E7841-E7850
DOI：10.1073/pnas.1707375114
语种：English
出版社：The National Academy of Sciences of the United States of America
摘要：Characterizing the collective regulatory impact of genetic variants on complex phenotypes is a major challenge in developing a genotype to phenotype map. Using expression quantitative trait locus (eQTL) analyses, we constructed bipartite networks in which edges represent significant associations between genetic variants and gene expression levels and found that the network structure informs regulatory function. We show, in 13 tissues, that these eQTL networks are organized into dense, highly modular communities grouping genes often involved in coherent biological processes. We find communities representing shared processes across tissues, as well as communities associated with tissue-specific processes that coalesce around variants in tissue-specific active chromatin regions. Node centrality is also highly informative, with the global and community hubs differing in regulatory potential and likelihood of being disease associated.
关键词：GTEx ; expression quantitative trait locus ; eQTL ; bipartite networks ; GWAS