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Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

Chen, Lu
CollaborationWith : Delaneau, Olivier / Dermitzakis, Emmanouil / Antonarakis, Stylianos
Published in Cell. 2016, vol. 167, no. 5, p. 1398-1414.e24
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.
PMID: 27863251
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Article (Published version) (10.2 MB) - public document Free access
Research groups Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
Population Genomics and Genetics of Complex Traits (892)
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CHEN, Lu. Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells. In: Cell, 2016, vol. 167, n° 5, p. 1398-1414.e24. doi: 10.1016/j.cell.2016.10.026 https://archive-ouverte.unige.ch/unige:90728

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Deposited on : 2016-12-21

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