Detalle de: Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells
| Title | Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells |
| 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. |
| Apa Reference | Chen, L., Ge, B., Casale, F.P., Vasquez, L., Kwan, T., Garrido-Martín, D., Watt, S., Yan, Y., Kundu, K., Ecker, S., Datta, A., Richardson, D., Burden, F., Mead, D., Mann, A.L., Fernandez, J.M., Rowlston, S., Wilder, S.P., Farrow, S., Shao, X., Lambourne, J.J., Redensek, A., Albers, C.A., Amstislavskiy, V., Ashford, S., Berentsen, K., Bomba, L., Bourque, G., Bujold, D., Busche, S., Caron, M., Chen, S., Cheung, W., Delaneau, O., Dermitzakis, E.T., Elding, H., Colgiu, I., Bagger, F.O., Flicek, P., Habibi, E., Iotchkova, V., Janssen-Megens, E., Kim, B., Lehrach, H., Lowy, E., Mandoli, A., Matarese, F., Maurano, M.T., Morris, J.A., Pancaldi, V., Pourfarzad, F., Rehnstrom, K., Rendon, A., Risch, T., Sharifi, N., Simon, M., Sultan, M., Valencia, A., Walter, K., Wang, S., Frontini, M., Antonarakis, S.E., Clarke, L., Yaspo, M., Beck, S., Guigo, R., Rico, D., Martens, J.H., Ouwehand, W.H., Kuijpers, T.W., Paul, D.S., Stunnenberg, H.G., Stegle, O., Downes, K., Pastinen, T. & Soranzo, N. (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 |
| Doi | 10.1016/j.cell.2016.10.026 |
| Publication Date | Nov 2016 |
| Publication Type | Article |
| Researcher | Daniel Rico |
| Ontology | Omics, Transcriptomics, Genomics, Biological Databases, Expression Profiling, Epigenomics, Histone structure and regulation, Quantitative genetics |
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