Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes

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Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes

TitlePolarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes
Publication TypeJournal Article
Year of Publication2014
AuthorsRaj, T, Rothamel, K, Mostafavi, S, Ye, C, Lee, MN, Replogle, JM, Feng, T, Lee, M, Asinovski, N, Frohlich, I, Imboywa, S, Von Korff, A, Okada, Y, Patsopoulos, NA, Davis, S, McCabe, C, Paik, H-il, Srivastava, GP, Raychaudhuri, S, Hafler, DA, Koller, D, Regev, A, Hacohen, N, Mathis, D, Benoist, C, Stranger, BE, De Jager, PL
JournalSCIENCE
Volume344
Pagination519-523
Date PublishedMAY 2
Type of ArticleArticle
ISSN0036-8075
AbstractTo 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(+) 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.
DOI10.1126/science.1249547