Journal
SCIENCE
Volume 344, Issue 6183, Pages 519-523Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1249547
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Funding
- U.S. National Institute of General Medical Sciences [RC2 GM093080]
- NIH [F32 AG043267]
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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.
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