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Semin Immunol. 2015 Feb;27(1):51-7. doi: 10.1016/j.smim.2015.03.003. Epub 2015 Mar 25.

ImmVar project: Insights and design considerations for future studies of "healthy" immune variation.

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Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Departments of Neurology and Psychiatry, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; The Broad Institute, Cambridge, MA 02142, USA. Electronic address:
The Broad Institute, Cambridge, MA 02142, USA; Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital, Charlestown, MA 02129, USA.
Department of Microbiology and Immunobiology, Division of Immunology, Harvard Medical School, Boston, MA 02115, USA.
The Broad Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute, USA; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
Section of Genetic Medicine, Department of Medicine, University of Chicago, IL 60637, USA; Institute for Genomics and Systems Biology, University of Chicago, Chicago, IL 60637, USA.


The Immune Variation (ImmVar) project is one of a series of recent efforts to map the extent of variation in immune function in healthy human subjects. The focus of our initial studies involved a careful mapping of the genetic architecture of the adaptive and innate immunologic transcriptomes. Our studies highlight the shared nature of this immunogenetic architecture across human populations, the important role of context in uncovering effects of genetic variation, and the fact that, over all tested genes, common genetic variation account for a minority of the variance in the immune transcriptome in healthy subjects. Yet, it is an element of the variance that can be measured very precisely and will play an important role in the design of future studies. We therefore discuss how insights from ImmVar and similar studies inform experimental strategies and frame the design of future studies of immune function in health and disease.


Genetic architecture; Genetic variation; Healty immune variation; eQTL

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