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