| Title | Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes |
| Publication Type | Journal Article |
| Year of Publication | 2014 |
| Authors | Raj, 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 |
| Journal | SCIENCE |
| Volume | 344 |
| Pagination | 519-523 |
| Date Published | MAY 2 |
| Type of Article | Article |
| ISSN | 0036-8075 |
| 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(+) 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. |
| DOI | 10.1126/science.1249547 |
