Immune Variation

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Science Signaling  11 Mar 2014:
Vol. 7, Issue 316, pp. ec69
DOI: 10.1126/scisignal.2005253

It is difficult to determine the mechanistic consequences of context-dependent genetic variants, some of which may be related to disease (see the Perspective by Gregersen). Two studies now report on the effects of stimulating immunological monocytes and dendritic cells with proteins that can elicit a response to bacterial or viral infection and assess the functional links between genetic variants and profiles of gene expression. Lee et al. analyzed the expression of more than 400 genes, in dendritic cells from 30 healthy subjects, which revealed how expression quantitative trait loci (eQTLs) affect gene expression within the interferon-β and the Toll-like receptor 3 and 4 pathways. Fairfax et al. performed a genome-wide analysis to show that many eQTLs affected monocyte gene expression in a stimulus- or time-specific manner.

B. P. Fairfax, P. Humburg, S. Makino, V. Naranbhai, D. Wong, E. Lau, L. Jostins, K. Plant, R. Andrews, C. McGee, J. C. Knight, Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression. Science 343, 1246949 (2014). [Abstract] [Full Text]

M. N. Lee, C. Ye, A.-C. Villani, T. Raj, W. Li, T. M. Eisenhaure, S. H. Imboywa, P. I. Chipendo, F. A. Ran, K. Slowikowski, L. D. Ward, K. Raddassi, C. McCabe, M. H. Lee, I. Y. Frohlich, D. A. Hafler, M. Kellis, S. Raychaudhuri, F. Zhang, B. E. Stranger, C. O. Benoist, P. L. De Jager, A. Regev, N. Hacohen, Common genetic variants modulate pathogen-sensing responses in human dendritic cells. Science 343, 1246980 (2014). [Abstract] [Full Text]

P. K. Gregersen, A genomic road map for complex human disease. Science 343, 1087–1088 (2014). [Abstract] [Full Text]

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