Chen, L;
Ge, B;
Casale, FP;
Vasquez, L;
Kwan, T;
Garrido-Martín, D;
Watt, S;
... Soranzo, N; + view all
(2016)
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.
Cell
, 167
(5)
1398-1414.e24.
10.1016/j.cell.2016.10.026.
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Ecker_Chen et al. - 2016 - Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.pdf Download (10MB) | Preview |
Abstract
Characterizing the multifaceted contribution of genetic and epigenetic factors to disease phenotypes is a major challenge in human genetics and medicine. We carried out high-resolution genetic, epigenetic, and transcriptomic profiling in three major human immune cell types (CD14(+) monocytes, CD16(+) neutrophils, and naive CD4(+) T cells) from up to 197 individuals. We assess, quantitatively, the relative contribution of cis-genetic and epigenetic factors to transcription and evaluate their impact as potential sources of confounding in epigenome-wide association studies. Further, we characterize highly coordinated genetic effects on gene expression, methylation, and histone variation through quantitative trait locus (QTL) mapping and allele-specific (AS) analyses. Finally, we demonstrate colocalization of molecular trait QTLs at 345 unique immune disease loci. This expansive, high-resolution atlas of multi-omics changes yields insights into cell-type-specific correlation between diverse genomic inputs, more generalizable correlations between these inputs, and defines molecular events that may underpin complex disease risk.
| Type: | Article |
|---|---|
| Title: | Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.cell.2016.10.026 |
| Publisher version: | http://doi.org/10.1016/j.cell.2016.10.026 |
| Language: | English |
| Additional information: | © 2016 The Authors. Published by Elsevier Inc. This is an open access article under the Creative Commons Attribution 4.0 International (CC BY 4.0) license (http://creativecommons.org/licenses/by/4.0/) |
| Keywords: | DNA methylation, EWAS, QTL, allele specific, histone modification, immune, monocyte, neutrophil, t-cell, transription |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Cancer Bio |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1530105 |
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