Polarization of the effects of autoimmune and neurodegenerative risk alleles in leukocytes

Towfique Raj, Katie Rothamel, Sara Mostafavi, Chun Ye, Mark N. Lee, Joseph M. Replogle, Ting Feng, Michelle Lee, Natasha Asinovski, Irene Frohlich, Selina Imboywa, Alina Von Korff, Yukinori Okada, Nikolaos A. Patsopoulos, Scott Davis, Cristin McCabe, Hyun Il Paik, Gyan P. Srivastava, Soumya Raychaudhuri, David A. HaflerDaphne Koller, Aviv Regev, Nir Hacohen, Diane Mathis, Christophe Benoist*, Barbara Elaine Stranger, Philip L. De Jager

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

281 Scopus citations


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+ 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.

Original languageEnglish (US)
Pages (from-to)519-523
Number of pages5
Issue number6183
StatePublished - 2014

ASJC Scopus subject areas

  • General


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