Local genetic effects on gene expression across 44 human tissues
Andrew A Brown,
Stephane E. Castel,
Joe R. Davis,
Ayellet V Segrè,
Nathan S Abell,
Nicholas J. Wareham,
Michael J. Gloudemans,
John J Palowitch,
Christine B Peterson,
Andrey A. Shabalin,
Tyler C. Shimko,
Benjamin J. Strober,
Timothy J Sullivan,
Nicole A. Teran,
Emily K Tsang,
Carlos D Bustamonte,
Nancy J. Cox,
Daniel G MacArthur,
Andrew B. Nobel,
Fred A Wright,
Kristin G. Ardlie,
Emmanouil T. Dermitzakis,
Christopher D. Brown,
Stephen B. Montgomery
Posted 09 Sep 2016
bioRxiv DOI: 10.1101/074450
Posted 09 Sep 2016
Expression quantitative trait locus (eQTL) mapping provides a powerful means to identify functional variants influencing gene expression and disease pathogenesis. We report the identification of cis-eQTLs from 7,051 post-mortem samples representing 44 tissues and 449 individuals as part of the Genotype-Tissue Expression (GTEx) project. We find a cis-eQTL for 88% of all annotated protein-coding genes, with one-third having multiple independent effects. We identify numerous tissue-specific cis-eQTLs, highlighting the unique functional impact of regulatory variation in diverse tissues. By integrating large-scale functional genomics data and state-of-the-art fine-mapping algorithms, we identify multiple features predictive of tissue-specific and shared regulatory effects. We improve estimates of cis-eQTL sharing and effect sizes using allele specific expression across tissues. Finally, we demonstrate the utility of this large compendium of cis-eQTLs for understanding the tissue-specific etiology of complex traits, including coronary artery disease. The GTEx project provides an exceptional resource that has improved our understanding of gene regulation across tiss
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