Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes
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Regev_Polarization of the.pdf
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Author(s)
Raj, T.
Rothamel, K.
Mostafavi, S.
Ye, C.
Lee, M. N.
Replogle, J. M.
Feng, T.
Lee, M.
Asinovski, N.
Frohlich, I.
Date Issued
May 2014
Journal
Science
Publisher
American Association for the Advancement of Science (AAAS)
Citation
Raj, T. et al. “Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes.” Science 344.6183 (2014): 519–523.
Version
Author's final manuscript
Abstract
To extend our understanding of the genetic basis of human immune function and dysfunction, we performed an expression quantitative trait locus (eQTL) study of purified CD4[superscript +] T cells and monocytes, representing adaptive and innate immunity, in a multi-ethnic cohort of 461 healthy individuals. Context-specific cis- and trans-eQTLs were identified, and cross-population mapping allowed, in some cases, putative functional assignment of candidate causal regulatory variants for disease-associated loci. We note an over-representation of T cell–specific eQTLs among susceptibility alleles for autoimmune diseases and of monocyte-specific eQTLs among Alzheimer’s and Parkinson’s disease variants. This polarization implicates specific immune cell types in these diseases and points to the need to identify the cell-autonomous effects of disease susceptibility variants.
MIT Department
Massachusetts Institute of Technology. Department of Biology
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Creative Commons Attribution-Noncommercial-Share Alike
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DOI of Published Version
https://doi.org/10.1126/science.1249547
