| Literature DB >> 24786080 |
Towfique Raj1, 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 Hafler, Daphne Koller, Aviv Regev, Nir Hacohen, Diane Mathis, Christophe Benoist, Barbara E Stranger, Philip L De Jager.
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.Entities:
Mesh：
Year: 2014 PMID： 24786080 PMCID： PMC4910825 DOI： 10.1126/science.1249547
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728