| Literature DB >> 32913075 |
Sarah Kim-Hellmuth1,2,3, François Aguet4, Meritxell Oliva5,6, Manuel Muñoz-Aguirre7,8, Silva Kasela2,3, Valentin Wucher7, Stephane E Castel2,3, Andrew R Hamel4,9, Ana Viñuela10,11,12,13, Amy L Roberts10, Serghei Mangul14,15, Xiaoquan Wen16, Gao Wang17, Alvaro N Barbeira5, Diego Garrido-Martín7, Brian B Nadel18, Yuxin Zou19, Rodrigo Bonazzola5, Jie Quan20, Andrew Brown11,21, Angel Martinez-Perez22, José Manuel Soria22, Gad Getz4,23,24, Emmanouil T Dermitzakis11,12,13, Kerrin S Small10, Matthew Stephens17, Hualin S Xi25, Hae Kyung Im5, Roderic Guigó7,26, Ayellet V Segrè4,9, Barbara E Stranger5,27, Kristin G Ardlie4, Tuuli Lappalainen28,3.
Abstract
The Genotype-Tissue Expression (GTEx) project has identified expression and splicing quantitative trait loci in cis (QTLs) for the majority of genes across a wide range of human tissues. However, the functional characterization of these QTLs has been limited by the heterogeneous cellular composition of GTEx tissue samples. We mapped interactions between computational estimates of cell type abundance and genotype to identify cell type-interaction QTLs for seven cell types and show that cell type-interaction expression QTLs (eQTLs) provide finer resolution to tissue specificity than bulk tissue cis-eQTLs. Analyses of genetic associations with 87 complex traits show a contribution from cell type-interaction QTLs and enables the discovery of hundreds of previously unidentified colocalized loci that are masked in bulk tissue.Entities:
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Year: 2020 PMID： 32913075 PMCID： PMC8051643 DOI： 10.1126/science.aaz8528
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 63.714