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The GTEx Consortium atlas of genetic regulatory effects across human tissues

bioRxiv (Cold Spring Harbor Laboratory)2019

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François Aguet, Alvaro Barbeira, Rodrigo Bonazzola, Andrew Brown, Stephane E. Castel, Brian Jo, Silva Kasela, Sarah Kim-Hellmuth, Yanyu Liang, Meritxell Oliva, Princy Parsana, Elise D. Flynn, Laure Frésard, Eric R Gaamzon, Andrew R. Hamel, Yuan He, Farhad Hormozdiari, Pejman Mohammadi, Manuel Muñoz-Aguirre, YoSon Park, Ashis Saha, Ayellet V Segrć, Benjamin J. Strober, Xiaoquan Wen, Valentin Wucher, Sayantan Das, Diego Garrido-Martín, Nicole R. Gay, Robert E. Handsaker, Paul Hoffman, Seva Kashin, Alan Kwong, Xiao Li, Daniel G. MacArthur, John M. Rouhana, Matthew Stephens, Ellen Todres, Ana Viñuela, Gao Wang, Yuxin Zou, Christopher D. Brown, Nancy J. Cox, Emmanouil T. Dermitzakis, Barbara E. Engelhardt, Gad Getz, Roderic Guigó, Stephen B. Montgomery, Barbara E. Stranger, Hae Kyung Im, Alexis Battle, Kristin Ardlie, Tuuli Lappalainen

Abstract

Abstract The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues, and to link these regulatory mechanisms to trait and disease associations. Here, we present analyses of the v8 data, based on 17,382 RNA-sequencing samples from 54 tissues of 948 post-mortem donors. We comprehensively characterize genetic associations for gene expression and splicing in cis and trans , showing that regulatory associations are found for almost all genes, and describe the underlying molecular mechanisms and their contribution to allelic heterogeneity and pleiotropy of complex traits. Leveraging the large diversity of tissues, we provide insights into the tissue-specificity of genetic effects, and show that cell type composition is a key factor in understanding gene regulatory mechanisms in human tissues.

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Abstract

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